#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CT47B1	643311	broad.mit.edu	37	X	120008925	120008925	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:120008925C>T	ENST00000371311.3	-	1	854	c.600G>A	c.(598-600)gcG>gcA	p.A200A		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	200								p.A200A(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CTGGGACCGACGCGGCCTCCT	0.716																																						ENST00000371311.3																			1	Substitution - coding silent(1)	p.A200A(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(598-600)gcG>gcA		cancer/testis antigen family 47, member B1																																				SO:0001819	synonymous_variant	643311							g.chrX:120008925C>T		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.600G>A	X.37:g.120008925C>T							p.A200A	NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN			1	854	-			200					A6NM97	Silent	SNP	ENST00000371311.3	37	c.600G>A	CCDS48161.1																																																																																				0.716	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		3	23	0	0	0	1	0	3	23				
RNF6	6049	broad.mit.edu	37	13	26789216	26789216	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:26789216C>A	ENST00000381588.4	-	5	1555	c.803G>T	c.(802-804)aGg>aTg	p.R268M	RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Missense_Mutation_p.R268M|RNF6_ENST00000381570.3_Missense_Mutation_p.R268M|RNF6_ENST00000399762.2_Intron	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	268					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CTCCCTTTGCCTGAGTTCACT	0.458																																						ENST00000381588.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23						c.(802-804)aGg>aTg		ring finger protein (C3H2C3 type) 6							174.0	161.0	165.0					13																	26789216		2203	4300	6503	SO:0001583	missense	6049				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:26789216C>A	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.803G>T	13.37:g.26789216C>A	ENSP00000371000:p.Arg268Met					RNF6_ENST00000381570.3_Missense_Mutation_p.R268M|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000399762.2_Intron|RNF6_ENST00000346166.3_Missense_Mutation_p.R268M	p.R268M	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)	5	1555	-	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	268					B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	ENST00000381588.4	37	c.803G>T	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.083104	0.36758	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570	T;T;T	0.09445	2.98;2.98;2.98	5.16	3.27	0.37495	.	0.427965	0.23589	N	0.046569	T	0.11110	0.0271	L	0.59436	1.845	0.80722	D	1	B	0.25667	0.131	B	0.21546	0.035	T	0.06250	-1.0837	10	0.62326	D	0.03	-6.7297	6.8861	0.24202	0.3114:0.5993:0.0:0.0893	.	268	Q9Y252	RNF6_HUMAN	M	268	ENSP00000342121:R268M;ENSP00000371000:R268M;ENSP00000370982:R268M	ENSP00000342121:R268M	R	-	2	0	RNF6	25687216	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.047000	0.41269	1.392000	0.46585	0.557000	0.71058	AGG		0.458	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977		111	240	1	0	1.04528e-42	1	1.24341e-42	111	240				
POC1B	282809	broad.mit.edu	37	12	89818965	89818965	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:89818965A>C	ENST00000313546.3	-	11	1433	c.1305T>G	c.(1303-1305)atT>atG	p.I435M	POC1B_ENST00000549035.1_Missense_Mutation_p.I393M|POC1B_ENST00000378528.2_3'UTR|POC1B_ENST00000541909.1_3'UTR|POC1B_ENST00000546740.1_5'UTR|POC1B_ENST00000393179.4_Missense_Mutation_p.I305M	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	435					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						GTTGTTCCATAATATGCTCTA	0.433																																						ENST00000393179.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.(913-915)atT>atG		POC1 centriolar protein B							214.0	169.0	184.0					12																	89818965		2203	4300	6503	SO:0001583	missense	282809							g.chr12:89818965A>C	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.1305T>G	12.37:g.89818965A>C	ENSP00000323302:p.Ile435Met					POC1B_ENST00000541909.1_3'UTR|POC1B_ENST00000378528.2_3'UTR|POC1B_ENST00000549035.1_Missense_Mutation_p.I393M|POC1B_ENST00000546740.1_5'UTR|POC1B_ENST00000313546.3_Missense_Mutation_p.I435M	p.I305M							9	1528	-								G3V1X0	Missense_Mutation	SNP	ENST00000313546.3	37	c.915T>G	CCDS31869.1	.	.	.	.	.	.	.	.	.	.	A	14.07	2.424392	0.43020	.	.	ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000549035	T;T;T	0.70749	-0.51;-0.51;-0.51	5.8	-6.84	0.01687	.	0.119867	0.56097	D	0.000035	T	0.76492	0.3995	L	0.59436	1.845	0.44194	D	0.99701	D	0.76494	0.999	D	0.80764	0.994	T	0.79541	-0.1761	10	0.52906	T	0.07	.	16.0563	0.80809	0.3656:0.0:0.6344:0.0	.	435	Q8TC44	POC1B_HUMAN	M	305;435;393	ENSP00000376877:I305M;ENSP00000323302:I435M;ENSP00000447916:I393M	ENSP00000323302:I435M	I	-	3	3	POC1B	88343096	0.010000	0.17322	0.691000	0.30163	0.155000	0.21991	-1.800000	0.01744	-1.208000	0.02634	-0.371000	0.07208	ATT		0.433	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240		166	296	0	0	0	1	0	166	296				
ASXL3	80816	broad.mit.edu	37	18	31241578	31241578	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr18:31241578A>T	ENST00000269197.5	+	5	355		c.e5-1			NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTCTGTTTCTAGTTTGTTCGA	0.378																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.e5-1		additional sex combs like 3 (Drosophila)							53.0	50.0	51.0					18																	31241578		1865	4105	5970	SO:0001630	splice_region_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31241578A>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.356-1A>T	18.37:g.31241578A>T								NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			5	355	+								Q6ZMX6|Q96MU3|Q9UFC5	Splice_Site	SNP	ENST00000269197.5	37		CCDS45847.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.334547	0.81801	.	.	ENSG00000141431	ENST00000269197	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ASXL3	29495576	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.778000	0.75043	2.326000	0.78906	0.533000	0.62120	.		0.378	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2		Intron	3	27	0	0	0	1	0	3	27				
RPTOR	57521	broad.mit.edu	37	17	78857684	78857684	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:78857684G>T	ENST00000306801.3	+	16	2116	c.1754G>T	c.(1753-1755)tGg>tTg	p.W585L	RPTOR_ENST00000544334.2_Intron|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	585					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGCAGGATCTGGCAGAACTTC	0.642																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(1753-1755)tGg>tTg		regulatory associated protein of MTOR, complex 1							67.0	62.0	64.0					17																	78857684		2203	4300	6503	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78857684G>T		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1754G>T	17.37:g.78857684G>T	ENSP00000307272:p.Trp585Leu					RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Intron	p.W585L	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			16	2116	+			585					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.1754G>T	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730432	0.89390	.	.	ENSG00000141564	ENST00000306801	T	0.30182	1.54	4.68	4.68	0.58851	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59689	0.2212	M	0.87827	2.91	0.80722	D	1	D	0.76494	0.999	D	0.65233	0.933	T	0.65606	-0.6127	10	0.42905	T	0.14	.	18.0063	0.89210	0.0:0.0:1.0:0.0	.	585	Q8N122	RPTOR_HUMAN	L	585	ENSP00000307272:W585L	ENSP00000307272:W585L	W	+	2	0	RPTOR	76472279	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	9.159000	0.94728	2.322000	0.78497	0.558000	0.71614	TGG		0.642	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		5	160	1	0	5.9392e-07	1	6.41504e-07	5	160				
MAGI1	9223	broad.mit.edu	37	3	65342652	65342652	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:65342652T>C	ENST00000402939.2	-	23	3789	c.3790A>G	c.(3790-3792)Agg>Ggg	p.R1264G	RP11-88H12.2_ENST00000602316.1_RNA|MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1293					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTCGGATCCCTTGCGTGTGCC	0.592																																						ENST00000402939.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(3790-3792)Agg>Ggg		membrane associated guanylate kinase, WW and PDZ domain containing 1							152.0	143.0	146.0					3																	65342652		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65342652T>C	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.3790A>G	3.37:g.65342652T>C	ENSP00000385450:p.Arg1264Gly					MAGI1_ENST00000330909.8_3'UTR	p.R1264G	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	23	3789	-		Lung NSC(201;0.0016)	1293					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000402939.2	37	c.3790A>G	CCDS33780.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.982503	0.34942	.	.	ENSG00000151276	ENST00000402939	T	0.14022	2.54	4.6	4.6	0.57074	.	0.602490	0.16824	N	0.198027	T	0.11324	0.0276	N	0.24115	0.695	0.80722	D	1	B	0.24721	0.11	B	0.24848	0.056	T	0.11641	-1.0579	10	0.40728	T	0.16	-2.6488	13.9875	0.64345	0.0:0.0:0.0:1.0	.	1264	Q96QZ7-2	.	G	1264	ENSP00000385450:R1264G	ENSP00000385450:R1264G	R	-	1	2	MAGI1	65317692	0.878000	0.30173	0.487000	0.27428	0.717000	0.41224	2.206000	0.42779	1.704000	0.51252	0.402000	0.26972	AGG		0.592	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349126.1	NM_004742		4	263	0	0	0	1	0	4	263				
ZNF789	285989	broad.mit.edu	37	7	99084134	99084134	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:99084134C>A	ENST00000331410.5	+	5	571	c.301C>A	c.(301-303)Cca>Aca	p.P101T	ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAAGCTAACTCCAAAACAGAA	0.343																																						ENST00000331410.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11						c.(301-303)Cca>Aca		zinc finger protein 789							40.0	43.0	42.0					7																	99084134		2203	4300	6503	SO:0001583	missense	285989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:99084134C>A	AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.301C>A	7.37:g.99084134C>A	ENSP00000331927:p.Pro101Thr					ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000448667.1_3'UTR	p.P101T	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN			5	571	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		101					A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	ENST00000331410.5	37	c.301C>A	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	C	0.726	-0.781622	0.02929	.	.	ENSG00000198556	ENST00000331410	T	0.05081	3.5	2.8	-1.69	0.08186	.	.	.	.	.	T	0.03959	0.0111	L	0.33485	1.01	0.09310	N	1	B	0.30068	0.267	B	0.25291	0.059	T	0.42361	-0.9456	9	0.29301	T	0.29	.	3.4587	0.07524	0.0:0.3621:0.2053:0.4326	.	101	Q5FWF6	ZN789_HUMAN	T	101	ENSP00000331927:P101T	ENSP00000331927:P101T	P	+	1	0	ZNF789	98922070	0.001000	0.12720	0.004000	0.12327	0.041000	0.13682	0.202000	0.17295	-0.414000	0.07495	-0.827000	0.03088	CCA		0.343	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		12	33	1	0	1.52009e-12	1	1.73998e-12	12	33				
SIGLEC10	89790	broad.mit.edu	37	19	51918835	51918835	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:51918835T>G	ENST00000339313.5	-	6	1175	c.1059A>C	c.(1057-1059)caA>caC	p.Q353H	CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.Q205H|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.Q353H|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.Q270H|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.Q295H|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.Q353H|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.Q295H|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.Q263H|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.Q305H			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	353	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TCCTGTTTGCTTGGGAAACCA	0.597																																						ENST00000353836.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1057-1059)caA>caC		sialic acid binding Ig-like lectin 10							145.0	142.0	143.0					19																	51918835		2203	4300	6503	SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51918835T>G	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1059A>C	19.37:g.51918835T>G	ENSP00000345243:p.Gln353His					SIGLEC10_ENST00000442846.3_Missense_Mutation_p.Q205H|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.Q270H|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.Q295H|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.Q353H|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.Q263H|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.Q353H|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.Q295H|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.Q305H	p.Q353H	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	6	1280	-		all_neural(266;0.0199)	353			Ig-like C2-type 3.		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	c.1059A>C	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	0.049	-1.256186	0.01457	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313	T;T;T;T;T;T;T;T;T	0.53206	0.89;2.11;1.5;0.79;1.93;1.68;0.63;1.88;0.79	3.49	-2.57	0.06248	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.373740	0.04901	N	0.451377	T	0.38506	0.1043	L	0.47716	1.5	0.09310	N	1	B;P;B;B;B;B;B;B	0.37824	0.058;0.609;0.124;0.216;0.196;0.096;0.098;0.147	B;B;B;B;B;B;B;B	0.41135	0.033;0.119;0.078;0.348;0.162;0.072;0.077;0.068	T	0.21895	-1.0232	10	0.38643	T	0.18	.	0.9144	0.01301	0.1666:0.3124:0.1714:0.3495	.	305;263;353;205;353;295;295;353	C9JM10;E9PL79;B7ZL04;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;.;SIG10_HUMAN	H	353;270;205;353;295;263;295;305;353	ENSP00000342389:Q353H;ENSP00000396742:Q270H;ENSP00000395475:Q205H;ENSP00000348646:Q353H;ENSP00000408387:Q295H;ENSP00000431444:Q263H;ENSP00000389132:Q295H;ENSP00000414324:Q305H;ENSP00000345243:Q353H	ENSP00000345243:Q353H	Q	-	3	2	SIGLEC10	56610647	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.170000	0.03118	-0.718000	0.04949	-0.374000	0.07098	CAA		0.597	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		9	478	0	0	0	1	0	9	478				
CSMD1	64478	broad.mit.edu	37	8	2876174	2876174	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:2876174T>A	ENST00000520002.1	-	53	8414		c.e53-2		CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Splice_Site			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1							integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACGAGATAACTAGAAGGAAAA	0.378																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.e53-2		CUB and Sushi multiple domains 1							88.0	85.0	86.0					8																	2876174		1863	4099	5962	SO:0001630	splice_region_variant	64478					integral to membrane		g.chr8:2876174T>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7859-2A>T	8.37:g.2876174T>A						CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602557.1_Splice_Site|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Splice_Site				Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	53	8414	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)						Q0H0J5|Q96QU9|Q96RM4	Splice_Site	SNP	ENST00000520002.1	37			.	.	.	.	.	.	.	.	.	.	T	14.05	2.420236	0.42918	.	.	ENSG00000183117	ENST00000335551;ENST00000520002;ENST00000318252;ENST00000537824	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9954	0.71428	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD1	2863581	1.000000	0.71417	0.703000	0.30354	0.290000	0.27261	7.785000	0.85724	2.001000	0.58596	0.533000	0.62120	.		0.378	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	Intron	7	199	0	0	0	1	0	7	199				
TCF20	6942	broad.mit.edu	37	22	42608900	42608900	+	Silent	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:42608900C>A	ENST00000359486.3	-	1	2548	c.2412G>T	c.(2410-2412)ctG>ctT	p.L804L	TCF20_ENST00000335626.4_Silent_p.L804L|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	804					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TGCTTTTGTTCAGAAGGCCCC	0.478																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(2410-2412)ctG>ctT		transcription factor 20 (AR1)							62.0	59.0	60.0					22																	42608900		2203	4300	6503	SO:0001819	synonymous_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42608900C>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.2412G>T	22.37:g.42608900C>A						TCF20_ENST00000335626.4_Silent_p.L804L	p.L804L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	2548	-			804					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	c.2412G>T	CCDS14033.1																																																																																				0.478	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		4	47	1	0	0.014758	1	0.0153046	4	47				
RGS8	85397	broad.mit.edu	37	1	182617279	182617279	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:182617279G>A	ENST00000483095.2	-	6	610	c.353C>T	c.(352-354)cCa>cTa	p.P118L	RGS8_ENST00000367557.4_Missense_Mutation_p.P118L|RGS8_ENST00000367556.1_Missense_Mutation_p.P118L|RGS8_ENST00000258302.4_Missense_Mutation_p.P136L			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	118	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						CACCTCCCGTGGAGCCTGCAC	0.532																																					Ovarian(189;1262 3804 41973)	ENST00000483095.2																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						c.(352-354)cCa>cTa		regulator of G-protein signaling 8							143.0	132.0	136.0					1																	182617279		2203	4300	6503	SO:0001583	missense	85397				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:182617279G>A	AF297015	CCDS1349.1, CCDS41443.1	1q25	2008-07-18	2007-08-14		ENSG00000135824	ENSG00000135824		"""Regulators of G-protein signaling"""	16810	protein-coding gene	gene with protein product		607189	"""regulator of G-protein signalling 8"""			11318611	Standard	NM_001102450		Approved	MGC119067, MGC119068, MGC119069	uc001gpm.1	P57771	OTTHUMG00000035219	ENST00000483095.2:c.353C>T	1.37:g.182617279G>A	ENSP00000426289:p.Pro118Leu					RGS8_ENST00000258302.4_Missense_Mutation_p.P136L|RGS8_ENST00000367557.4_Missense_Mutation_p.P118L|RGS8_ENST00000367556.1_Missense_Mutation_p.P118L	p.P118L			P57771	RGS8_HUMAN			6	610	-			118			RGS.		B4DGL9|Q3SYD2	Missense_Mutation	SNP	ENST00000483095.2	37	c.353C>T	CCDS41443.1	.	.	.	.	.	.	.	.	.	.	G	31	5.096152	0.94197	.	.	ENSG00000135824	ENST00000483095;ENST00000258302;ENST00000367557;ENST00000367556	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.51	5.51	0.81932	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.66386	0.2784	M	0.85099	2.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.71361	-0.4616	10	0.72032	D	0.01	.	19.0644	0.93104	0.0:0.0:1.0:0.0	.	118;136	P57771;P57771-2	RGS8_HUMAN;.	L	118;136;118;118	ENSP00000426289:P118L;ENSP00000258302:P136L;ENSP00000356528:P118L;ENSP00000356527:P118L	ENSP00000258302:P136L	P	-	2	0	RGS8	180883902	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	7.325000	0.79124	2.595000	0.87683	0.558000	0.71614	CCA		0.532	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358979.1	NM_033345		32	165	0	0	0	1	0	32	165				
MTFR1	9650	broad.mit.edu	37	8	66621209	66621209	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:66621209A>T	ENST00000262146.4	+	8	1059		c.e8-1		MTFR1_ENST00000458689.2_Splice_Site	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1						aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GTTTGTTTCTAGTTTGGGCCA	0.403																																						ENST00000262146.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11						c.e8-1		mitochondrial fission regulator 1							119.0	130.0	126.0					8																	66621209		2203	4300	6503	SO:0001630	splice_region_variant	9650					mitochondrion|plasma membrane		g.chr8:66621209A>T		CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"""likely ortholog of chicken chondrocyte protein with a poly proline region"""					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.934-1A>T	8.37:g.66621209A>T						MTFR1_ENST00000458689.2_Splice_Site		NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)		8	1059	+								E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Splice_Site	SNP	ENST00000262146.4	37		CCDS6182.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.638666	0.47153	.	.	ENSG00000066855	ENST00000518609;ENST00000262146;ENST00000458689;ENST00000518800	.	.	.	4.11	2.97	0.34412	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.912	0.41411	0.9131:0.0:0.0869:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTFR1	66783763	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	8.010000	0.88615	1.866000	0.54105	0.533000	0.62120	.		0.403	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378894.1	NM_014637	Intron	7	124	0	0	0	1	0	7	124				
SLC26A4	5172	broad.mit.edu	37	7	107315388	107315388	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:107315388A>T	ENST00000265715.3	+	6	824		c.e6-1			NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4						chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCCTTATCGTAGTTGATATTT	0.398									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.e6-1		solute carrier family 26 (anion exchanger), member 4							211.0	198.0	202.0					7																	107315388		2203	4300	6503	SO:0001630	splice_region_variant	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107315388A>T	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.601-1A>T	7.37:g.107315388A>T								NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			6	824	+								B7Z266|O43170	Splice_Site	SNP	ENST00000265715.3	37		CCDS5746.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.797617	0.70567	.	.	ENSG00000091137	ENST00000265715	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7942	0.78398	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC26A4	107102624	1.000000	0.71417	0.995000	0.50966	0.749000	0.42624	8.456000	0.90359	2.135000	0.66039	0.528000	0.53228	.		0.398	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441	Intron	6	376	0	0	0	1	0	6	376				
TRPC4	7223	broad.mit.edu	37	13	38357441	38357441	+	Silent	SNP	A	A	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:38357441A>C	ENST00000379705.3	-	2	887	c.30T>G	c.(28-30)gtT>gtG	p.V10V	TRPC4_ENST00000355779.2_Silent_p.V10V|TRPC4_ENST00000447043.1_Silent_p.V10V|TRPC4_ENST00000426868.2_Silent_p.V10V|TRPC4_ENST00000379681.3_Silent_p.V10V|TRPC4_ENST00000358477.2_Silent_p.V10V|TRPC4_ENST00000379679.1_Silent_p.V10V|TRPC4_ENST00000379673.2_Silent_p.V10V|TRPC4_ENST00000338947.5_Silent_p.V10V			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	10					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGGGAGCATTAACATTTCTTT	0.388																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(28-30)gtT>gtG		transient receptor potential cation channel, subfamily C, member 4							93.0	89.0	90.0					13																	38357441		2203	4300	6503	SO:0001819	synonymous_variant	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38357441A>C	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.30T>G	13.37:g.38357441A>C						TRPC4_ENST00000447043.1_Silent_p.V10V|TRPC4_ENST00000379679.1_Silent_p.V10V|TRPC4_ENST00000338947.5_Silent_p.V10V|TRPC4_ENST00000355779.2_Silent_p.V10V|TRPC4_ENST00000379673.2_Silent_p.V10V|TRPC4_ENST00000379681.3_Silent_p.V10V|TRPC4_ENST00000426868.2_Silent_p.V10V|TRPC4_ENST00000358477.2_Silent_p.V10V	p.V10V			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	2	887	-			10					B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	c.30T>G	CCDS9365.1																																																																																				0.388	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		81	83	0	0	0	1	0	81	83				
SMG7	9887	broad.mit.edu	37	1	183495729	183495729	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:183495729A>T	ENST00000347615.2	+	5	431		c.e5-1		SMG7_ENST00000367537.3_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000456731.2_Splice_Site|SMG7_ENST00000507406.1_Splice_Site	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor						gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TTTTTCTTTTAGTTATTACAA	0.333																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.e6-1		SMG7 nonsense mediated mRNA decay factor							70.0	75.0	74.0					1																	183495729		2203	4300	6503	SO:0001630	splice_region_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183495729A>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.313-1A>T	1.37:g.183495729A>T						SMG7_ENST00000456731.2_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000347615.2_Splice_Site|SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000508461.1_Splice_Site				Q92540	SMG7_HUMAN			6	594	+								B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Splice_Site	SNP	ENST00000347615.2	37		CCDS1355.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.464105	0.63513	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1025	0.81194	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMG7	181762352	1.000000	0.71417	0.974000	0.42286	0.892000	0.51952	8.638000	0.91019	2.254000	0.74563	0.533000	0.62120	.		0.333	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837	Intron	5	76	0	0	0	1	0	5	76				
OS9	10956	broad.mit.edu	37	12	58089814	58089814	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:58089814C>T	ENST00000315970.7	+	4	514	c.473C>T	c.(472-474)aCa>aTa	p.T158I	OS9_ENST00000439210.2_Missense_Mutation_p.T99I|OS9_ENST00000389142.5_Missense_Mutation_p.T158I|OS9_ENST00000435406.2_Intron|OS9_ENST00000257966.8_Missense_Mutation_p.T158I|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000551035.1_Missense_Mutation_p.T158I|OS9_ENST00000552285.1_Missense_Mutation_p.T158I|OS9_ENST00000389146.6_Missense_Mutation_p.T158I|OS9_ENST00000413095.2_Intron	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	158	PRKCSH.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GATGATGAAACAGCCAAGGTG	0.507																																						ENST00000315970.7																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21						c.(472-474)aCa>aTa		osteosarcoma amplified 9, endoplasmic reticulum lectin							74.0	68.0	70.0					12																	58089814		2203	4300	6503	SO:0001583	missense	10956				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding	g.chr12:58089814C>T	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.473C>T	12.37:g.58089814C>T	ENSP00000318165:p.Thr158Ile					OS9_ENST00000435406.2_Intron|OS9_ENST00000389146.6_Missense_Mutation_p.T158I|OS9_ENST00000439210.2_Missense_Mutation_p.T99I|OS9_ENST00000257966.8_Missense_Mutation_p.T158I|OS9_ENST00000551035.1_Missense_Mutation_p.T158I|OS9_ENST00000552285.1_Missense_Mutation_p.T158I|OS9_ENST00000413095.2_Intron|OS9_ENST00000389142.5_Missense_Mutation_p.T158I|RP11-571M6.7_ENST00000549477.1_RNA	p.T158I	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		4	514	+	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		158			PRKCSH.		A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	ENST00000315970.7	37	c.473C>T	CCDS31843.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365203	0.82463	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000551035;ENST00000257966;ENST00000389142	T;T;T;T;T;T;T	0.26810	1.72;1.72;1.73;1.72;3.76;1.72;1.71	5.28	4.33	0.51752	Glucosidase II beta subunit-like (1);	0.105896	0.64402	D	0.000006	T	0.41259	0.1151	L	0.56280	1.765	0.50171	D	0.999859	D;D;D;D;D;D;D	0.89917	0.976;0.96;0.997;0.968;0.998;0.999;1.0	P;P;D;P;D;D;D	0.77557	0.601;0.663;0.977;0.773;0.987;0.987;0.99	T	0.07809	-1.0753	10	0.37606	T	0.19	-7.4057	9.5804	0.39484	0.1579:0.6889:0.1531:0.0	.	99;158;158;158;158;158;158	E7EW91;F8VUH2;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;OS9_HUMAN	I	158;158;99;158;158;158;158	ENSP00000450010:T158I;ENSP00000318165:T158I;ENSP00000407360:T99I;ENSP00000373798:T158I;ENSP00000447866:T158I;ENSP00000257966:T158I;ENSP00000373794:T158I	ENSP00000257966:T158I	T	+	2	0	OS9	56376081	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.971000	0.56831	2.475000	0.83589	0.591000	0.81541	ACA		0.507	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408344.1	NM_006812		14	458	0	0	0	1	0	14	458				
ERCC5	2073	broad.mit.edu	37	13	103513996	103513996	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:103513996G>T	ENST00000355739.4	+	7	2235	c.812G>T	c.(811-813)gGc>gTc	p.G271V	BIVM-ERCC5_ENST00000602836.1_Silent_p.G696G	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	271					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GATGAAGGGGGCTTTCTGAAG	0.388			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000355739.4			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""Mis, N, F"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51						c.(811-813)gGc>gTc	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 5							123.0	126.0	125.0					13																	103513996		2203	4300	6503	SO:0001583	missense	2073	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV				g.chr13:103513996G>T	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.812G>T	13.37:g.103513996G>T	ENSP00000347978:p.Gly271Val					BIVM-ERCC5_ENST00000602836.1_Silent_p.G696G	p.G271V	NM_000123.3	NP_000114.2					7	2235	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)							A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.812G>T	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785173	0.90282	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955	T	0.20332	2.08	5.59	5.59	0.84812	.	0.170125	0.52532	D	0.000069	T	0.48519	0.1504	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.91635	0.944;0.999;0.999	T	0.33548	-0.9864	10	0.42905	T	0.14	-17.8275	19.6012	0.95563	0.0:0.0:1.0:0.0	.	271;271;696	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	V	696;271;103	ENSP00000347978:G271V	ENSP00000347978:G271V	G	+	2	0	ERCC5	102311997	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.234000	0.65343	2.625000	0.88918	0.557000	0.71058	GGC		0.388	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			10	315	1	0	4.3838e-07	1	4.76329e-07	10	315				
RFX7	64864	broad.mit.edu	37	15	56388271	56388271	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:56388271C>T	ENST00000559447.2	-	9	1635	c.1364G>A	c.(1363-1365)tGc>tAc	p.C455Y	RFX7_ENST00000423270.1_Missense_Mutation_p.C552Y|RFX7_ENST00000317318.6_Missense_Mutation_p.C552Y|RFX7_ENST00000422057.1_Missense_Mutation_p.C455Y			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	455					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GTTCTCTTGGCACTGTACAGG	0.512																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1654-1656)tGc>tAc		regulatory factor X, 7							58.0	55.0	56.0					15																	56388271		1960	4139	6099	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56388271C>T			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1364G>A	15.37:g.56388271C>T	ENSP00000453281:p.Cys455Tyr					RFX7_ENST00000559447.2_Missense_Mutation_p.C455Y|RFX7_ENST00000422057.1_Missense_Mutation_p.C455Y|RFX7_ENST00000317318.6_Missense_Mutation_p.C552Y	p.C552Y	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			9	1654	-			455					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.1655G>A		.	.	.	.	.	.	.	.	.	.	C	14.36	2.513252	0.44660	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.53423	0.62;0.62;0.62	5.09	5.09	0.68999	.	0.075153	0.56097	D	0.000029	T	0.37489	0.1005	N	0.19112	0.55	0.50467	D	0.999873	P;P	0.34462	0.454;0.454	B;B	0.34722	0.188;0.188	T	0.37911	-0.9685	10	0.59425	D	0.04	-1.3726	17.4716	0.87647	0.0:1.0:0.0:0.0	.	455;455	Q2KHR2;C9JU50	RFX7_HUMAN;.	Y	455;552;552	ENSP00000387504:C455Y;ENSP00000313299:C552Y;ENSP00000397644:C552Y	ENSP00000313299:C552Y	C	-	2	0	RFX7	54175563	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.671000	0.54576	2.336000	0.79503	0.655000	0.94253	TGC		0.512	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		6	54	0	0	0	1	0	6	54				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240795	39240795	+	Missense_Mutation	SNP	A	A	T	rs541163988|rs553572799|rs9894966	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:39240795A>T	ENST00000391417.4	+	1	337	c.337A>T	c.(337-339)Agc>Tgc	p.S113C		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	138	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.R111_C115delRPSCC(1)|p.S113C(1)|p.?(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						ctgccgccccagctgctgccg	0.667																																						ENST00000391417.4																			3	Substitution - Missense(1)|Unknown(1)|Deletion - In frame(1)	p.R111_C115delRPSCC(1)|p.S113C(1)|p.?(1)	NS(2)|prostate(1)	NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(337-339)Agc>Tgc		keratin associated protein 4-7							13.0	14.0	14.0					17																	39240795		692	1589	2281	SO:0001583	missense	100132476							g.chr17:39240795A>T	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.337A>T	17.37:g.39240795A>T	ENSP00000375236:p.Ser113Cys						p.S113C	NM_033061.3	NP_149050.3					1	337	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.337A>T	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	2.613	-0.290379	0.05568	.	.	ENSG00000240871	ENST00000391417	T	0.00640	6.03	2.73	1.42	0.22433	.	2.038930	0.02697	N	0.111300	T	0.00666	0.0022	.	.	.	0.20403	N	0.999909	B	0.09022	0.002	B	0.12837	0.008	T	0.46190	-0.9209	9	0.56958	D	0.05	.	3.0387	0.06130	0.5149:0.2451:0.0:0.24	rs9894966	168	Q9BYR0	KRA47_HUMAN	C	113	ENSP00000375236:S113C	ENSP00000375236:S113C	S	+	1	0	KRTAP4-7	36494321	0.000000	0.05858	0.056000	0.19401	0.021000	0.10359	-0.332000	0.07904	0.986000	0.38683	0.240000	0.17902	AGC		0.667	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			4	16	0	0	0	1	0	4	16				
ELOVL5	60481	broad.mit.edu	37	6	53133936	53133936	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:53133936G>T	ENST00000542638.1	-	8	1336	c.889C>A	c.(889-891)Cgg>Agg	p.R297R	ELOVL5_ENST00000370918.4_Silent_p.R287R|ELOVL5_ENST00000304434.6_Silent_p.R297R|ELOVL5_ENST00000541407.1_Silent_p.R324R			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	297					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					CAATCCTTCCGCAGCTTCCTT	0.478																																						ENST00000542638.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(889-891)Cgg>Agg		ELOVL fatty acid elongase 5							186.0	152.0	163.0					6																	53133936		2203	4300	6503	SO:0001819	synonymous_variant	60481				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:53133936G>T	AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"""ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"", ""spinocerebellar ataxia 38"""	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.889C>A	6.37:g.53133936G>T						ELOVL5_ENST00000304434.6_Silent_p.R297R|ELOVL5_ENST00000370918.4_Silent_p.R287R|ELOVL5_ENST00000541407.1_Silent_p.R324R	p.R297R			Q9NYP7	ELOV5_HUMAN			8	1336	-	Lung NSC(77;0.116)		297					B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Silent	SNP	ENST00000542638.1	37	c.889C>A	CCDS4951.1																																																																																				0.478	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043566.1	NM_021814		12	784	1	0	4.3838e-07	1	4.76329e-07	12	784				
OR2M2	391194	broad.mit.edu	37	1	248343639	248343639	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:248343639A>T	ENST00000359682.2	+	1	352	c.352A>T	c.(352-354)Atg>Ttg	p.M118L		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTTGGCTGTTATGGCTTATGA	0.408																																						ENST00000359682.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(352-354)Atg>Ttg		olfactory receptor, family 2, subfamily M, member 2							205.0	218.0	214.0					1																	248343639		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343639A>T	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.352A>T	1.37:g.248343639A>T	ENSP00000352710:p.Met118Leu						p.M118L	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	352	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		118					A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.352A>T	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	a	11.45	1.641902	0.29157	.	.	ENSG00000198601	ENST00000359682	T	0.00892	5.57	2.03	2.03	0.26663	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36972	U	0.002301	T	0.03651	0.0104	H	0.97874	4.095	0.23396	N	0.997767	B	0.19200	0.034	B	0.20384	0.029	T	0.15378	-1.0439	10	0.87932	D	0	.	9.5289	0.39182	1.0:0.0:0.0:0.0	.	118	Q96R28	OR2M2_HUMAN	L	118	ENSP00000352710:M118L	ENSP00000352710:M118L	M	+	1	0	OR2M2	246410262	0.999000	0.42202	0.032000	0.17829	0.004000	0.04260	4.722000	0.61958	0.951000	0.37770	0.373000	0.22412	ATG		0.408	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		6	317	0	0	0	1	0	6	317				
RANBP2	5903	broad.mit.edu	37	2	109378555	109378555	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:109378555A>T	ENST00000283195.6	+	19	2728		c.e19-1			NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTGTTTTTTTAGTTGCAACTA	0.333																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.e19-1		RAN binding protein 2							91.0	100.0	97.0					2																	109378555		931	2027	2958	SO:0001630	splice_region_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109378555A>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2603-1A>T	2.37:g.109378555A>T								NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			19	2728	+								Q13074|Q15280|Q53TE2|Q59FH7	Splice_Site	SNP	ENST00000283195.6	37		CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294558	0.81025	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3858	0.74699	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RANBP2	108744987	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.847000	0.75404	2.088000	0.63022	0.455000	0.32223	.		0.333	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	Intron	3	32	0	0	0	1	0	3	32				
UNC13C	440279	broad.mit.edu	37	15	54307905	54307905	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:54307905A>C	ENST00000260323.11	+	1	2805	c.2805A>C	c.(2803-2805)ttA>ttC	p.L935F	UNC13C_ENST00000537900.1_Missense_Mutation_p.L935F|UNC13C_ENST00000545554.1_Missense_Mutation_p.L935F	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	935					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAGAGGGGTTAGAACCCTTAA	0.403																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(2803-2805)ttA>ttC		unc-13 homolog C (C. elegans)							79.0	77.0	78.0					15																	54307905		1856	4105	5961	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54307905A>C	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2805A>C	15.37:g.54307905A>C	ENSP00000260323:p.Leu935Phe					UNC13C_ENST00000260323.11_Missense_Mutation_p.L935F|UNC13C_ENST00000537900.1_Missense_Mutation_p.L935F	p.L935F			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	2805	+			935					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.2805A>C	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	A	9.602	1.128912	0.21041	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.81078	-1.45;-1.38;-1.45	5.69	3.81	0.43845	.	.	.	.	.	T	0.63651	0.2529	N	0.24115	0.695	0.31705	N	0.640274	B	0.32968	0.392	B	0.30029	0.11	T	0.59674	-0.7410	9	0.12103	T	0.63	.	8.287	0.31935	0.2432:0.0:0.7568:0.0	.	935	Q8NB66	UN13C_HUMAN	F	935	ENSP00000260323:L935F;ENSP00000438156:L935F;ENSP00000442569:L935F	ENSP00000260323:L935F	L	+	3	2	UNC13C	52095197	0.980000	0.34600	0.966000	0.40874	0.773000	0.43773	1.070000	0.30653	0.742000	0.32697	-0.248000	0.11899	TTA		0.403	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		69	66	0	0	0	1	0	69	66				
CTAGE9	643854	broad.mit.edu	37	6	132031797	132031797	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:132031797C>A	ENST00000314099.8	-	1	409	c.361G>T	c.(361-363)Gca>Tca	p.A121S	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	121						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						TCTTCTGCTGCCGCCTTCTCA	0.398																																						ENST00000314099.8																			0				endometrium(1)|lung(1)	2						c.(361-363)Gca>Tca		CTAGE family, member 9							2.0	2.0	2.0					6																	132031797		555	1207	1762	SO:0001583	missense	643854					integral to membrane		g.chr6:132031797C>A		CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.361G>T	6.37:g.132031797C>A	ENSP00000395587:p.Ala121Ser					ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron	p.A121S	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN			1	409	-			121						Missense_Mutation	SNP	ENST00000314099.8	37	c.361G>T	CCDS47475.1	.	.	.	.	.	.	.	.	.	.	-	0.776	-0.764177	0.02996	.	.	ENSG00000236761	ENST00000314099	T	0.37411	1.2	.	.	.	.	.	.	.	.	T	0.05456	0.0144	N	0.13140	0.3	0.09310	N	1	B	0.14438	0.01	B	0.15484	0.013	T	0.43814	-0.9368	6	0.12430	T	0.62	.	.	.	.	.	121	A4FU28	CTGE9_HUMAN	S	121	ENSP00000395587:A121S	ENSP00000395587:A121S	A	-	1	0	CTAGE9	132073490	0.010000	0.17322	.	.	.	.	-0.311000	0.08124	.	.	.	.	GCA		0.398	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109220.1	NM_001145659		4	147	1	0	0.00198382	1	0.00208101	4	147				
AAR2	25980	broad.mit.edu	37	20	34832710	34832710	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:34832710G>T	ENST00000373932.3	+	3	1195	c.849G>T	c.(847-849)cgG>cgT	p.R283R	AAR2_ENST00000320849.4_Silent_p.R283R|AAR2_ENST00000397286.3_Silent_p.R283R	NM_015511.3	NP_056326.2	Q9Y312	AAR2_HUMAN	AAR2 splicing factor homolog (S. cerevisiae)	283																	TCCTGTGCCGGTCAGAAGCAG	0.527																																						ENST00000373932.3																			0											c.(847-849)cgG>cgT		AAR2 splicing factor homolog (S. cerevisiae)							213.0	172.0	186.0					20																	34832710		2203	4300	6503	SO:0001819	synonymous_variant	25980							g.chr20:34832710G>T		CCDS13273.1	20q11.23	2012-07-20	2012-07-20	2012-07-20	ENSG00000131043	ENSG00000131043			15886	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 4"""	C20orf4			Standard	NM_015511		Approved	bA234K24.2	uc002xfc.3	Q9Y312	OTTHUMG00000032380	ENST00000373932.3:c.849G>T	20.37:g.34832710G>T						AAR2_ENST00000320849.4_Silent_p.R283R|AAR2_ENST00000397286.3_Silent_p.R283R	p.R283R	NM_015511.3	NP_056326.2					3	1195	+								E1P5S7|Q9H4F9|Q9P1P3|Q9UFK9	Silent	SNP	ENST00000373932.3	37	c.849G>T	CCDS13273.1																																																																																				0.527	AAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079001.2	NM_015511		13	237	1	0	2.35188e-11	1	2.65042e-11	13	237				
ARHGEF12	23365	broad.mit.edu	37	11	120331379	120331379	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:120331379A>T	ENST00000397843.2	+	27	2693		c.e27-1		ARHGEF12_ENST00000356641.3_Splice_Site|ARHGEF12_ENST00000532993.1_Splice_Site|AP000758.1_ENST00000595283.1_5'Flank	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12						apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TTTTATCTTTAGTTGGATTGA	0.323			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.e27-1		Rho guanine nucleotide exchange factor (GEF) 12							119.0	117.0	118.0					11																	120331379		1808	4069	5877	SO:0001630	splice_region_variant	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120331379A>T	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.2528-1A>T	11.37:g.120331379A>T						ARHGEF12_ENST00000356641.3_Splice_Site|ARHGEF12_ENST00000532993.1_Splice_Site		NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	27	2693	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)						O15086|Q6P526	Splice_Site	SNP	ENST00000397843.2	37		CCDS41727.1	.	.	.	.	.	.	.	.	.	.	A	19.55	3.848484	0.71603	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1623	0.81730	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGEF12	119836589	1.000000	0.71417	0.996000	0.52242	0.719000	0.41307	8.687000	0.91255	2.226000	0.72624	0.454000	0.30748	.		0.323	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313	Intron	6	205	0	0	0	1	0	6	205				
FGGY	55277	broad.mit.edu	37	1	60103973	60103973	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:60103973A>T	ENST00000303721.7	+	11	1321	c.1147A>T	c.(1147-1149)Act>Tct	p.T383S	FGGY_ENST00000474476.1_Intron|FGGY_ENST00000371218.4_Missense_Mutation_p.T383S|FGGY_ENST00000371212.1_Missense_Mutation_p.T295S|FGGY_ENST00000371210.1_Missense_Mutation_p.T84S	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	383					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GGGTTTCCTTACTGTTGATTT	0.418																																						ENST00000371218.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1147-1149)Act>Tct		FGGY carbohydrate kinase domain containing							190.0	176.0	181.0					1																	60103973		2203	4300	6503	SO:0001583	missense	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:60103973A>T		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.1147A>T	1.37:g.60103973A>T	ENSP00000305922:p.Thr383Ser					FGGY_ENST00000474476.1_Intron|FGGY_ENST00000303721.7_Missense_Mutation_p.T383S|FGGY_ENST00000371212.1_Missense_Mutation_p.T295S|FGGY_ENST00000371210.1_Missense_Mutation_p.T84S	p.T383S	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN			11	1331	+	all_cancers(7;7.36e-05)		383					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Missense_Mutation	SNP	ENST00000303721.7	37	c.1147A>T	CCDS611.2	.	.	.	.	.	.	.	.	.	.	A	19.26	3.793617	0.70452	.	.	ENSG00000172456	ENST00000371218;ENST00000303721;ENST00000371212;ENST00000371210	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	5.23	5.23	0.72850	Carbohydrate kinase, FGGY, C-terminal (1);	0.271183	0.42420	D	0.000713	D	0.89791	0.6817	L	0.39245	1.2	0.42068	D	0.991199	D;P;P;P	0.57899	0.981;0.946;0.651;0.859	D;P;B;P	0.64237	0.923;0.629;0.375;0.609	D	0.88560	0.3122	9	.	.	.	-17.8945	9.7399	0.40411	0.9236:0.0:0.0764:0.0	.	383;295;383;383	Q96C11-3;B1AK94;F2Z2V1;Q96C11	.;.;.;FGGY_HUMAN	S	383;383;295;84	ENSP00000360262:T383S;ENSP00000305922:T383S;ENSP00000360256:T295S;ENSP00000360254:T84S	.	T	+	1	0	FGGY	59876561	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.346000	0.65992	2.191000	0.70037	0.533000	0.62120	ACT		0.418	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		10	623	0	0	0	1	0	10	623				
CCDC18	343099	broad.mit.edu	37	1	93649533	93649533	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:93649533A>T	ENST00000343253.7	+	3	636		c.e3-1		CCDC18_ENST00000557479.1_Splice_Site|CCDC18_ENST00000334652.5_Splice_Site|CCDC18_ENST00000401026.3_Splice_Site|CCDC18_ENST00000338949.4_Splice_Site			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18											breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TTTTTTCTCTAGTGTTAGTCC	0.328																																						ENST00000343253.7																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.e3-1		coiled-coil domain containing 18							115.0	105.0	108.0					1																	93649533		1810	4073	5883	SO:0001630	splice_region_variant	343099							g.chr1:93649533A>T			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.135-1A>T	1.37:g.93649533A>T						CCDC18_ENST00000334652.5_Splice_Site|CCDC18_ENST00000401026.3_Splice_Site|CCDC18_ENST00000338949.4_Splice_Site|CCDC18_ENST00000557479.1_Splice_Site				Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	3	636	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)						Q6ZU17	Splice_Site	SNP	ENST00000343253.7	37			.	.	.	.	.	.	.	.	.	.	A	19.31	3.803472	0.70682	.	.	ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000448243;ENST00000370276	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9043	0.63823	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC18	93422121	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.947000	0.49058	2.306000	0.77630	0.482000	0.46254	.		0.328	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886	Intron	4	82	0	0	0	1	0	4	82				
LDHC	3948	broad.mit.edu	37	11	18451282	18451282	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:18451282A>T	ENST00000541669.1	+	4	355		c.e4-1		LDHC_ENST00000280704.4_Splice_Site|LDHC_ENST00000544105.1_Splice_Site|LDHC_ENST00000537486.1_Splice_Site|LDHC_ENST00000535809.1_Splice_Site|LDHC_ENST00000536880.1_Intron|LDHC_ENST00000546146.1_Intron			P07864	LDHC_HUMAN	lactate dehydrogenase C						ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTTCCTTTTTAGATTACAGTG	0.383																																						ENST00000541669.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e4-1		lactate dehydrogenase C	NADH(DB00157)						61.0	53.0	56.0					11																	18451282		2199	4293	6492	SO:0001630	splice_region_variant	3948				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18451282A>T	AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"""cancer/testis antigen 32"""	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.245-1A>T	11.37:g.18451282A>T						LDHC_ENST00000535809.1_Splice_Site|LDHC_ENST00000544105.1_Splice_Site|LDHC_ENST00000280704.4_Splice_Site|LDHC_ENST00000546146.1_Intron|LDHC_ENST00000537486.1_Splice_Site|LDHC_ENST00000536880.1_Intron				P07864	LDHC_HUMAN			4	355	+								D3DQY4|Q6GSG8|Q7Z7J4	Splice_Site	SNP	ENST00000541669.1	37		CCDS7840.1	.	.	.	.	.	.	.	.	.	.	A	15.15	2.748071	0.49257	.	.	ENSG00000166796	ENST00000541669;ENST00000280704;ENST00000537486;ENST00000544105;ENST00000535809	.	.	.	4.51	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9928	0.64378	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LDHC	18407858	1.000000	0.71417	0.773000	0.31616	0.016000	0.09150	9.087000	0.94110	1.896000	0.54893	0.454000	0.30748	.		0.383	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395892.1	NM_017448	Intron	4	90	0	0	0	1	0	4	90				
CDK5RAP3	80279	broad.mit.edu	37	17	46058627	46058627	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:46058627C>A	ENST00000338399.4	+	13	1488	c.1382C>A	c.(1381-1383)gCa>gAa	p.A461E	RP11-6N17.10_ENST00000578239.1_RNA|CDK5RAP3_ENST00000536708.2_Missense_Mutation_p.A486E|CDK5RAP3_ENST00000578663.1_3'UTR	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	461					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CAGCAGGAGGCACTTGAGGAG	0.567																																						ENST00000536708.2																			0				NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						c.(1456-1458)gCa>gAa		CDK5 regulatory subunit associated protein 3							44.0	47.0	46.0					17																	46058627		1982	4168	6150	SO:0001583	missense	80279				brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding	g.chr17:46058627C>A	AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"""ischemic heart CDK5 activator-binding protein C53"", ""LXXLL/leucine-zipper-containing ARFbinding protein"""	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.1382C>A	17.37:g.46058627C>A	ENSP00000344683:p.Ala461Glu					RP11-6N17.10_ENST00000578239.1_RNA|CDK5RAP3_ENST00000578663.1_3'UTR|CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.A461E	p.A486E	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN			13	1566	+			461					B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Missense_Mutation	SNP	ENST00000338399.4	37	c.1457C>A	CCDS42356.1	.	.	.	.	.	.	.	.	.	.	C	33	5.266078	0.95399	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	T;T	0.51071	0.72;0.72	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.70979	0.3286	M	0.87269	2.87	0.80722	D	1	D;D;D;D	0.62365	0.957;0.984;0.966;0.991	P;P;P;P	0.62560	0.845;0.861;0.904;0.833	T	0.71909	-0.4450	10	0.35671	T	0.21	-24.7275	18.2723	0.90072	0.0:1.0:0.0:0.0	.	486;374;461;236	F5H3I5;Q96JB5-2;Q96JB5;Q96JB5-3	.;.;CK5P3_HUMAN;.	E	486;461	ENSP00000438886:A486E;ENSP00000344683:A461E	ENSP00000344683:A461E	A	+	2	0	CDK5RAP3	43413626	1.000000	0.71417	0.940000	0.37924	0.943000	0.58893	7.111000	0.77077	2.612000	0.88384	0.655000	0.94253	GCA		0.567	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096		7	154	1	0	0.27861	1	0.28015	7	154				
FILIP1	27145	broad.mit.edu	37	6	76023475	76023475	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:76023475A>T	ENST00000237172.7	-	5	2403	c.2073T>A	c.(2071-2073)aaT>aaA	p.N691K	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.N592K|FILIP1_ENST00000393004.2_Missense_Mutation_p.N691K	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	691										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTATTGCTTTATTCTTGGCAA	0.428																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2071-2073)aaT>aaA		filamin A interacting protein 1							211.0	212.0	211.0					6																	76023475		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76023475A>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2073T>A	6.37:g.76023475A>T	ENSP00000237172:p.Asn691Lys					FILIP1_ENST00000370020.1_Missense_Mutation_p.N592K|FILIP1_ENST00000237172.7_Missense_Mutation_p.N691K|FILIP1_ENST00000498523.1_5'UTR	p.N691K			Q7Z7B0	FLIP1_HUMAN			5	2294	-			691					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2073T>A	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	A	9.500	1.103089	0.20632	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.17054	2.3;2.3;2.31	5.66	-2.9	0.05648	.	0.043604	0.85682	D	0.000000	T	0.05777	0.0151	L	0.51422	1.61	0.46317	D	0.998988	P;B;B	0.41366	0.747;0.262;0.38	B;B;B	0.36959	0.17;0.119;0.237	T	0.12167	-1.0558	10	0.24483	T	0.36	-23.7077	13.6786	0.62469	0.2148:0.1029:0.6823:0.0	.	691;691;691	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	K	691;691;592	ENSP00000376728:N691K;ENSP00000237172:N691K;ENSP00000359037:N592K	ENSP00000237172:N691K	N	-	3	2	FILIP1	76080195	0.558000	0.26554	0.977000	0.42913	0.946000	0.59487	-0.124000	0.10595	-0.561000	0.06094	-0.371000	0.07208	AAT		0.428	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		9	928	0	0	0	1	0	9	928				
IGSF5	150084	broad.mit.edu	37	21	41142841	41142841	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr21:41142841A>T	ENST00000380588.4	+	4	521		c.e4-1		IGSF5_ENST00000479378.1_Splice_Site	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5						single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TTTCTTCTTTAGTTATGGGAG	0.388																																						ENST00000380588.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23						c.e4-1		immunoglobulin superfamily, member 5							47.0	45.0	46.0					21																	41142841		2203	4300	6503	SO:0001630	splice_region_variant	150084					integral to membrane|tight junction		g.chr21:41142841A>T		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.419-1A>T	21.37:g.41142841A>T						IGSF5_ENST00000479378.1_Splice_Site		NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN			4	521	+		Prostate(19;5.35e-06)							Splice_Site	SNP	ENST00000380588.4	37		CCDS33562.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548062	0.65311	.	.	ENSG00000183067	ENST00000380588	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4568	0.61204	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IGSF5	40064711	0.998000	0.40836	0.918000	0.36340	0.882000	0.50991	5.040000	0.64191	2.251000	0.74343	0.528000	0.53228	.		0.388	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1		Intron	5	170	0	0	0	1	0	5	170				
DGCR14	8220	broad.mit.edu	37	22	19127229	19127229	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:19127229T>C	ENST00000252137.6	-	5	627	c.584A>G	c.(583-585)aAt>aGt	p.N195S		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	195					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GAGTTCGAGATTATCTTTCTG	0.562																																						ENST00000252137.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16						c.(583-585)aAt>aGt		DiGeorge syndrome critical region gene 14							152.0	140.0	144.0					22																	19127229		2203	4300	6503	SO:0001583	missense	8220				nervous system development	catalytic step 2 spliceosome		g.chr22:19127229T>C	L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.584A>G	22.37:g.19127229T>C	ENSP00000252137:p.Asn195Ser						p.N195S	NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN			5	627	-	Colorectal(54;0.0993)		195					Q49AH7|Q9BTZ4	Missense_Mutation	SNP	ENST00000252137.6	37	c.584A>G	CCDS13756.1	.	.	.	.	.	.	.	.	.	.	T	2.136	-0.397841	0.04865	.	.	ENSG00000100056	ENST00000252137	T	0.41400	1.0	4.47	2.31	0.28768	.	0.046498	0.85682	N	0.000000	T	0.25717	0.0626	L	0.34521	1.04	0.53688	D	0.999971	B	0.06786	0.001	B	0.09377	0.004	T	0.08351	-1.0726	10	0.08599	T	0.76	-7.6761	8.6123	0.33811	0.0:0.1637:0.0:0.8363	.	195	Q96DF8	DGC14_HUMAN	S	195	ENSP00000252137:N195S	ENSP00000252137:N195S	N	-	2	0	DGCR14	17507229	0.998000	0.40836	0.625000	0.29200	0.723000	0.41478	2.015000	0.40961	0.244000	0.21351	0.383000	0.25322	AAT		0.562	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2			9	117	0	0	0	1	0	9	117				
ZNF462	58499	broad.mit.edu	37	9	109688314	109688314	+	Silent	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:109688314T>A	ENST00000277225.5	+	3	2410	c.2121T>A	c.(2119-2121)atT>atA	p.I707I	ZNF462_ENST00000457913.1_Silent_p.I707I|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	707					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGAGCAAAATTAACCAAACCA	0.458																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2119-2121)atT>atA		zinc finger protein 462							175.0	160.0	165.0					9																	109688314		2203	4300	6503	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109688314T>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.2121T>A	9.37:g.109688314T>A						ZNF462_ENST00000457913.1_Silent_p.I707I	p.I707I			Q96JM2	ZN462_HUMAN			3	2410	+			707					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.2121T>A	CCDS35096.1																																																																																				0.458	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		6	355	0	0	0	1	0	6	355				
DHRS7B	25979	broad.mit.edu	37	17	21094259	21094259	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:21094259A>T	ENST00000395511.3	+	7	1092		c.e7-1		DHRS7B_ENST00000581463.1_Intron|DHRS7B_ENST00000579303.1_Splice_Site	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						TATTTATTTTAGTTATGGACA	0.517																																						ENST00000395511.3																			1	Unknown(1)	p.?(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						c.e7-1		dehydrogenase/reductase (SDR family) member 7B							82.0	81.0	82.0					17																	21094259		2203	4300	6503	SO:0001630	splice_region_variant	25979					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	g.chr17:21094259A>T	BC004126	CCDS11215.1	17p12	2011-09-20				ENSG00000109016		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	24547	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 1"""					10810093, 11230166, 19027726	Standard	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	Q6IAN0		ENST00000395511.3:c.773-1A>T	17.37:g.21094259A>T						DHRS7B_ENST00000579303.1_Splice_Site|DHRS7B_ENST00000581463.1_Intron		NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN			7	1092	+								B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	Splice_Site	SNP	ENST00000395511.3	37		CCDS11215.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.592061	0.46214	.	.	ENSG00000109016	ENST00000395511;ENST00000346603	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1502	0.81611	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHRS7B	21034851	1.000000	0.71417	0.745000	0.31077	0.287000	0.27160	8.794000	0.91867	2.224000	0.72417	0.533000	0.62120	.		0.517	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444066.3	NM_015510	Intron	6	93	0	0	0	1	0	6	93				
FNTB	2342	broad.mit.edu	37	14	65482384	65482384	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:65482384G>A	ENST00000246166.2	+	4	558	c.324G>A	c.(322-324)ctG>ctA	p.L108L	FNTB_ENST00000555742.1_3'UTR|CHURC1-FNTB_ENST00000549987.1_Silent_p.L143L|FNTB_ENST00000542227.1_Silent_p.L62L|FNTB_ENST00000447296.2_Silent_p.L142L|MAX_ENST00000341653.2_Intron|AL139022.1_ENST00000577601.1_RNA	NM_002028.3	NP_002019.1	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	108					negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ATTGGATCCTGCACAGCTTGG	0.493																																						ENST00000246166.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(322-324)ctG>ctA		farnesyltransferase, CAAX box, beta							124.0	108.0	113.0					14																	65482384		2203	4300	6503	SO:0001819	synonymous_variant	2342							g.chr14:65482384G>A		CCDS9769.1	14q23.3	2011-09-28			ENSG00000257365	ENSG00000257365			3785	protein-coding gene	gene with protein product		134636				8276393	Standard	NM_002028		Approved	FPTB		P49356	OTTHUMG00000142811	ENST00000246166.2:c.324G>A	14.37:g.65482384G>A						CHURC1-FNTB_ENST00000447296.2_Silent_p.L142L|CHURC1-FNTB_ENST00000542227.1_Silent_p.L62L|FNTB_ENST00000555742.1_3'UTR|MAX_ENST00000341653.2_Intron|CHURC1-FNTB_ENST00000448390.2_5'UTR	p.L108L	NM_002028.3	NP_002019.1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)	4	558	+								B2RDX6|B4E1A0	Silent	SNP	ENST00000246166.2	37	c.324G>A	CCDS9769.1																																																																																				0.493	FNTB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000286392.1	NM_002028		5	208	0	0	0	1	0	5	208				
USP2	9099	broad.mit.edu	37	11	119244139	119244139	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:119244139T>C	ENST00000260187.2	-	2	346	c.52A>G	c.(52-54)Aca>Gca	p.T18A	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	18	Necessary for interaction with MDM4.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TGGGCATCTGTGTAGCGGGCC	0.582																																						ENST00000260187.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24						c.(52-54)Aca>Gca		ubiquitin specific peptidase 2							49.0	35.0	40.0					11																	119244139		2198	4293	6491	SO:0001583	missense	9099				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	g.chr11:119244139T>C	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"""Ubiquitin-specific peptidases"""	12618	protein-coding gene	gene with protein product		604725	"""ubiquitin specific protease 2"""			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.52A>G	11.37:g.119244139T>C	ENSP00000260187:p.Thr18Ala					RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	p.T18A	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	2	346	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	18			Necessary for interaction with MDM4.		B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	ENST00000260187.2	37	c.52A>G	CCDS8422.1	.	.	.	.	.	.	.	.	.	.	T	10.26	1.300869	0.23650	.	.	ENSG00000036672	ENST00000260187;ENST00000531070;ENST00000527843	T	0.18960	2.18	5.37	4.17	0.49024	.	0.156326	0.44483	D	0.000445	T	0.09862	0.0242	N	0.12182	0.205	0.80722	D	1	B	0.17465	0.022	B	0.14023	0.01	T	0.15093	-1.0449	10	0.39692	T	0.17	-2.9024	3.7815	0.08682	0.1895:0.1012:0.0:0.7092	.	18	O75604	UBP2_HUMAN	A	18	ENSP00000260187:T18A	ENSP00000260187:T18A	T	-	1	0	USP2	118749349	0.998000	0.40836	1.000000	0.80357	0.807000	0.45602	0.329000	0.19698	2.028000	0.59812	0.459000	0.35465	ACA		0.582	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		3	45	0	0	0	1	0	3	45				
ZNF512	84450	broad.mit.edu	37	2	27838033	27838033	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:27838033A>T	ENST00000355467.4	+	11	1214		c.e11-1		ZNF512_ENST00000379717.1_Splice_Site|ZNF512_ENST00000416005.2_Splice_Site|ZNF512_ENST00000413371.2_Splice_Site|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_Splice_Site	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					CTTGTCTTGTAGTTAAAATAT	0.363																																						ENST00000355467.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e11-1		zinc finger protein 512							154.0	145.0	148.0					2																	27838033		2203	4300	6503	SO:0001630	splice_region_variant	84450				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:27838033A>T	AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"""Zinc fingers, C2H2-type"""	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.1132-1A>T	2.37:g.27838033A>T						ZNF512_ENST00000416005.2_Splice_Site|ZNF512_ENST00000379717.1_Splice_Site|ZNF512_ENST00000413371.2_Splice_Site|ZNF512_ENST00000556601.1_Splice_Site|RP11-158I13.2_ENST00000505973.1_RNA				Q96ME7	ZN512_HUMAN			11	1214	+	Acute lymphoblastic leukemia(172;0.155)							B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Splice_Site	SNP	ENST00000355467.4	37		CCDS1758.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.512015	0.85389	.	.	ENSG00000243943	ENST00000379717;ENST00000355467;ENST00000556601;ENST00000416005;ENST00000413371	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2369	0.59974	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF512	27691537	1.000000	0.71417	0.959000	0.39883	0.942000	0.58702	7.773000	0.85462	2.136000	0.66102	0.533000	0.62120	.		0.363	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215029.2	NM_032434	Intron	6	101	0	0	0	1	0	6	101				
RBAK	57786	broad.mit.edu	37	7	5104039	5104039	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:5104039A>G	ENST00000353796.3	+	6	1276	c.952A>G	c.(952-954)Aaa>Gaa	p.K318E	RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000396912.1_Missense_Mutation_p.K318E	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	318					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GAAGCCCTATAAATGTAATGA	0.423																																						ENST00000396912.1																			0				NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10						c.(952-954)Aaa>Gaa		RB-associated KRAB zinc finger							75.0	78.0	77.0					7																	5104039		2203	4300	6503	SO:0001583	missense	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5104039A>G	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.952A>G	7.37:g.5104039A>G	ENSP00000275423:p.Lys318Glu					RBAK_ENST00000353796.3_Missense_Mutation_p.K318E|RBAK_ENST00000396904.2_Intron|RBAK_ENST00000407184.1_Intron	p.K318E	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	5	1471	+		Ovarian(82;0.0175)	318					A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	c.952A>G	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	A	4.840	0.156233	0.09236	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.08370	3.1;3.1	3.76	2.59	0.31030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.113779	0.39834	N	0.001247	T	0.18002	0.0432	L	0.50333	1.59	0.26509	N	0.974636	D	0.65815	0.995	D	0.73708	0.981	T	0.11690	-1.0577	8	.	.	.	.	7.8121	0.29237	0.8942:0.0:0.1058:0.0	.	318	Q9NYW8	RBAK_HUMAN	E	318	ENSP00000275423:K318E;ENSP00000380120:K318E	.	K	+	1	0	RBAK	5070565	0.000000	0.05858	0.993000	0.49108	0.997000	0.91878	-1.146000	0.03191	0.779000	0.33543	0.454000	0.30748	AAA		0.423	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		7	167	0	0	0	1	0	7	167				
ZFHX4	79776	broad.mit.edu	37	8	77618806	77618806	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:77618806A>G	ENST00000521891.2	+	2	2931	c.2483A>G	c.(2482-2484)aAc>aGc	p.N828S	ZFHX4_ENST00000455469.2_Missense_Mutation_p.N828S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N828S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.N828S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	828					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTAGCCCAGAACATAGGCCTG	0.542										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(2482-2484)aAc>aGc		zinc finger homeobox 4							17.0	17.0	17.0					8																	77618806		1986	4164	6150	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618806A>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2483A>G	8.37:g.77618806A>G	ENSP00000430497:p.Asn828Ser	HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Missense_Mutation_p.N828S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N828S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.N828S|ZFHX4_ENST00000517683.1_Intron	p.N828S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2931	+			828					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.2483A>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	11.36	1.614346	0.28712	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53206	0.66;0.66;0.63;0.63	4.91	4.91	0.64330	.	0.000000	0.47093	U	0.000251	T	0.61800	0.2376	L	0.52364	1.645	0.80722	D	1	D;D;D;B	0.67145	0.993;0.996;0.996;0.178	D;D;D;B	0.73380	0.956;0.98;0.98;0.234	T	0.60969	-0.7157	10	0.41790	T	0.15	.	14.9861	0.71348	1.0:0.0:0.0:0.0	.	828;828;828;828	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	S	828	ENSP00000430497:N828S;ENSP00000399605:N828S;ENSP00000050961:N828S;ENSP00000430848:N828S	ENSP00000050961:N828S	N	+	2	0	ZFHX4	77781361	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.335000	0.79234	2.179000	0.69175	0.477000	0.44152	AAC		0.542	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		14	24	0	0	0	1	0	14	24				
GFM1	85476	broad.mit.edu	37	3	158378661	158378661	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:158378661A>T	ENST00000486715.1	+	10	1578		c.e10-1		GFM1_ENST00000264263.5_Splice_Site|GFM1_ENST00000478576.1_Splice_Site|GFM1_ENST00000490261.1_Splice_Site	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTGTTTTTTTAGGATGTTGAG	0.348																																						ENST00000486715.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22						c.e10-1		G elongation factor, mitochondrial 1							136.0	135.0	136.0					3																	158378661		2203	4300	6503	SO:0001630	splice_region_variant	85476				mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:158378661A>T	AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.1222-1A>T	3.37:g.158378661A>T						GFM1_ENST00000264263.5_Splice_Site|GFM1_ENST00000478576.1_Splice_Site|GFM1_ENST00000490261.1_Splice_Site		NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		10	1578	+									Splice_Site	SNP	ENST00000486715.1	37		CCDS33885.1	.	.	.	.	.	.	.	.	.	.	A	15.09	2.729825	0.48833	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.675	0.77311	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GFM1	159861355	1.000000	0.71417	0.929000	0.37066	0.442000	0.32017	8.706000	0.91362	2.155000	0.67459	0.459000	0.35465	.		0.348	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996	Intron	5	302	0	0	0	1	0	5	302				
HERC2P9	440248	broad.mit.edu	37	15	28929443	28929443	+	RNA	SNP	C	C	T	rs692165	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:28929443C>T	ENST00000528584.1	+	0	1980					NR_036443.1				hect domain and RLD 2 pseudogene 9																		TTTTGGGCTCCCTGGGTGGTC	0.532													c|||	834	0.166534	0.2413	0.1124	5008	,	,		12247	0.3988		0.005	False		,,,				2504	0.0307					ENST00000528584.1																			0																																																			440248							g.chr15:28929443C>T	BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28929443C>T								NR_036443.1						0	1980	+									RNA	SNP	ENST00000528584.1	37																																																																																						0.532	HERC2P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393268.1	NR_036443		3	31	0	0	0	1	0	3	31				
REV3L	5980	broad.mit.edu	37	6	111694794	111694794	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:111694794A>T	ENST00000358835.3	-	14	5218	c.4764T>A	c.(4762-4764)agT>agA	p.S1588R	REV3L_ENST00000368805.1_Missense_Mutation_p.S1588R|REV3L_ENST00000435970.1_Missense_Mutation_p.S1510R|REV3L_ENST00000368802.3_Missense_Mutation_p.S1588R			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1588					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTGTTTTGTACTTCTGGGAG	0.368								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(4528-4530)agT>agA	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							176.0	184.0	181.0					6																	111694794		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111694794A>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.4764T>A	6.37:g.111694794A>T	ENSP00000351697:p.Ser1588Arg					REV3L_ENST00000358835.3_Missense_Mutation_p.S1588R|REV3L_ENST00000368805.1_Missense_Mutation_p.S1588R|REV3L_ENST00000368802.3_Missense_Mutation_p.S1588R	p.S1510R			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	5346	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1588					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.4530T>A	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	A	8.135	0.783964	0.16189	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01538	4.88;4.88;4.88;4.79	6.04	4.86	0.63082	Ribonuclease H-like (1);	0.338132	0.33534	N	0.004805	T	0.00524	0.0017	N	0.25647	0.755	0.24738	N	0.993058	B	0.11235	0.004	B	0.06405	0.002	T	0.50021	-0.8876	10	0.33141	T	0.24	-0.7701	5.553	0.17101	0.7325:0.0:0.1342:0.1333	.	1588	O60673	DPOLZ_HUMAN	R	1588;1588;1588;1510	ENSP00000357792:S1588R;ENSP00000357795:S1588R;ENSP00000351697:S1588R;ENSP00000402003:S1510R	ENSP00000351697:S1588R	S	-	3	2	REV3L	111801487	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	2.554000	0.45845	1.065000	0.40693	0.460000	0.39030	AGT		0.368	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		5	88	0	0	0	1	0	5	88				
SLIT1	6585	broad.mit.edu	37	10	98817000	98817000	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:98817000C>T	ENST00000266058.4	-	12	1369	c.1124G>A	c.(1123-1125)gGt>gAt	p.G375D	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.G375D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	375					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCCAAACACACCACGGGGGAG	0.567																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(1123-1125)gGt>gAt		slit homolog 1 (Drosophila)							96.0	86.0	89.0					10																	98817000		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98817000C>T	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1124G>A	10.37:g.98817000C>T	ENSP00000266058:p.Gly375Asp					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.G375D	p.G375D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	12	1369	-		Colorectal(252;0.162)	375					Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.1124G>A	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830854	0.91036	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008	T;T;T	0.58652	0.32;0.32;0.32	5.73	5.73	0.89815	.	0.050832	0.85682	D	0.000000	T	0.68997	0.3062	L	0.33093	0.98	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.79108	0.992;0.974	T	0.70457	-0.4866	10	0.66056	D	0.02	.	19.4934	0.95062	0.0:1.0:0.0:0.0	.	385;375	E7EWQ8;O75093	.;SLIT1_HUMAN	D	375;385;351;375;368;351	ENSP00000266058:G375D;ENSP00000360109:G375D;ENSP00000315005:G368D	ENSP00000266058:G375D	G	-	2	0	SLIT1	98806990	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.361000	0.79497	2.713000	0.92767	0.655000	0.94253	GGT		0.567	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		14	36	0	0	0	1	0	14	36				
VRTN	55237	broad.mit.edu	37	14	74823530	74823530	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:74823530T>G	ENST00000256362.4	+	2	285	c.44T>G	c.(43-45)cTg>cGg	p.L15R		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	15					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CTGCAGGAGCTGCAGGAAGCA	0.587																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(43-45)cTg>cGg		vertebrae development associated							84.0	80.0	81.0					14																	74823530		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74823530T>G	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.44T>G	14.37:g.74823530T>G	ENSP00000256362:p.Leu15Arg						p.L15R	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	285	+			15					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.44T>G	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.410273	0.62399	.	.	ENSG00000133980	ENST00000557177;ENST00000256362	T;T	0.46819	0.86;0.86	4.9	4.9	0.64082	.	0.087858	0.47455	D	0.000239	T	0.52075	0.1712	L	0.27053	0.805	0.50313	D	0.999863	D	0.61697	0.99	P	0.61722	0.893	T	0.57075	-0.7873	10	0.87932	D	0	0.0368	13.2353	0.59967	0.0:0.0:0.0:1.0	.	15	Q9H8Y1	VRTN_HUMAN	R	15	ENSP00000452158:L15R;ENSP00000256362:L15R	ENSP00000256362:L15R	L	+	2	0	VRTN	73893283	1.000000	0.71417	0.999000	0.59377	0.854000	0.48673	7.097000	0.76967	2.059000	0.61396	0.459000	0.35465	CTG		0.587	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		8	102	0	0	0	1	0	8	102				
AVIL	10677	broad.mit.edu	37	12	58207197	58207197	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:58207197C>A	ENST00000257861.3	-	3	581	c.151G>T	c.(151-153)Gtg>Ttg	p.V51L	RP11-571M6.18_ENST00000602327.1_lincRNA|AVIL_ENST00000537081.1_Missense_Mutation_p.V44L	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	51	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGACTGGCCACTCTCCGGGTC	0.577																																						ENST00000537081.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32						c.(130-132)Gtg>Ttg		advillin							62.0	58.0	59.0					12																	58207197		2203	4300	6503	SO:0001583	missense	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58207197C>A	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.151G>T	12.37:g.58207197C>A	ENSP00000257861:p.Val51Leu					AVIL_ENST00000257861.3_Missense_Mutation_p.V51L	p.V44L			O75366	AVIL_HUMAN			3	129	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		51			Core (By similarity).		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	c.130G>T	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	C	8.029	0.761300	0.15914	.	.	ENSG00000135407	ENST00000537081;ENST00000257861;ENST00000549994	T;T;T	0.16743	2.32;2.32;2.32	4.73	2.73	0.32206	Gelsolin domain (1);	1.054110	0.07372	N	0.885912	T	0.17874	0.0429	L	0.41124	1.26	0.22610	N	0.998936	B;B;B	0.19445	0.001;0.001;0.036	B;B;B	0.32211	0.009;0.006;0.142	T	0.38802	-0.9644	10	0.17832	T	0.49	-3.6266	10.7575	0.46245	0.5232:0.4768:0.0:0.0	.	44;51;51	O75366-2;F8VVU1;O75366	.;.;AVIL_HUMAN	L	44;51;51	ENSP00000443207:V44L;ENSP00000257861:V51L;ENSP00000449239:V51L	ENSP00000257861:V51L	V	-	1	0	AVIL	56493464	0.034000	0.19679	0.982000	0.44146	0.542000	0.35054	0.313000	0.19415	1.317000	0.45149	0.655000	0.94253	GTG		0.577	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		54	98	1	0	2.40885e-21	1	2.80135e-21	54	98				
SLC30A9	10463	broad.mit.edu	37	4	42022431	42022431	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:42022431A>T	ENST00000264451.7	+	4	514		c.e4-1			NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9						nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTTTTTGTTTAGTTAAAGCAG	0.348																																						ENST00000264451.6																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.e4-1		solute carrier family 30 (zinc transporter), member 9							126.0	115.0	119.0					4																	42022431		2203	4299	6502	SO:0001630	splice_region_variant	10463				nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	g.chr4:42022431A>T	AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.335-1A>T	4.37:g.42022431A>T								NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN			4	514	+								Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Splice_Site	SNP	ENST00000264451.7	37		CCDS3465.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.592832	0.86953	.	.	ENSG00000014824	ENST00000264451	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4116	0.83717	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC30A9	41717188	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.788000	0.91834	2.276000	0.75962	0.528000	0.53228	.		0.348	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3		Intron	6	69	0	0	0	1	0	6	69				
ZNF484	83744	broad.mit.edu	37	9	95610604	95610604	+	Silent	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:95610604A>G	ENST00000375495.3	-	5	613	c.465T>C	c.(463-465)taT>taC	p.Y155Y	ZNF484_ENST00000395505.2_Silent_p.Y119Y|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Silent_p.Y157Y|ZNF484_ENST00000332591.6_Silent_p.Y119Y	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	155					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						CAATGTCCTTATATTCAAAGA	0.373																																						ENST00000395505.2																			0				NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(355-357)taT>taC		zinc finger protein 484							222.0	215.0	217.0					9																	95610604		2203	4300	6503	SO:0001819	synonymous_variant	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95610604A>G	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.465T>C	9.37:g.95610604A>G						ZNF484_ENST00000332591.6_Silent_p.Y119Y|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Silent_p.Y155Y|ZNF484_ENST00000395506.3_Silent_p.Y157Y	p.Y119Y	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN			3	449	-			155					B1AL89|B4DRI2	Silent	SNP	ENST00000375495.3	37	c.357T>C	CCDS35066.1																																																																																				0.373	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		53	120	0	0	0	1	0	53	120				
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A	rs199838243	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627																																						ENST00000385099.1																			0																																																			28812							g.chr22:23006960C>A																													22.37:g.23006960C>A														0	63	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	3	1	0	0.150653	1	0.153607	3	3				
A2ML1	144568	broad.mit.edu	37	12	8998036	8998036	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:8998036A>T	ENST00000299698.7	+	13	1656		c.e13-1		A2ML1_ENST00000540049.1_3'UTR|A2ML1_ENST00000539547.1_Splice_Site	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TTTCTTCTTTAGTTAATAGGG	0.428																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.e13-1		alpha-2-macroglobulin-like 1							74.0	73.0	73.0					12																	8998036		1867	4096	5963	SO:0001630	splice_region_variant	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8998036A>T	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1477-1A>T	12.37:g.8998036A>T						A2ML1_ENST00000539547.1_Splice_Site|A2ML1_ENST00000540049.1_3'UTR		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			13	1656	+									Splice_Site	SNP	ENST00000299698.7	37		CCDS8596.2	.	.	.	.	.	.	.	.	.	.	A	13.60	2.286896	0.40494	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000536789;ENST00000539547;ENST00000545692	.	.	.	4.0	2.86	0.33363	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9493	0.24536	0.804:0.0:0.196:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	A2ML1	8889303	1.000000	0.71417	0.856000	0.33681	0.964000	0.63967	4.210000	0.58500	0.884000	0.36064	0.459000	0.35465	.		0.428	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670	Intron	8	163	0	0	0	1	0	8	163				
DOCK2	1794	broad.mit.edu	37	5	169472850	169472850	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:169472850G>T	ENST00000256935.8	+	39	3987	c.3907G>T	c.(3907-3909)Gag>Tag	p.E1303*	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Nonsense_Mutation_p.E795*|DOCK2_ENST00000540750.1_Nonsense_Mutation_p.E364*	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1303	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTGTGCAAGGAGCTGGCGGA	0.572																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(3907-3909)Gag>Tag		dedicator of cytokinesis 2							186.0	165.0	172.0					5																	169472850		2203	4300	6503	SO:0001587	stop_gained	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169472850G>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3907G>T	5.37:g.169472850G>T	ENSP00000256935:p.Glu1303*					DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Nonsense_Mutation_p.E364*|DOCK2_ENST00000520908.1_Nonsense_Mutation_p.E795*	p.E1303*	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		39	3987	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1303			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Nonsense_Mutation	SNP	ENST00000256935.8	37	c.3907G>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	50	16.798328	0.99872	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	.	.	.	5.15	5.15	0.70609	.	0.057014	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	14.2665	0.66121	0.0:0.1489:0.8511:0.0	.	.	.	.	X	1303;795;364	.	ENSP00000256935:E1303X	E	+	1	0	DOCK2	169405428	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.527000	0.73803	2.379000	0.81126	0.561000	0.74099	GAG		0.572	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		11	590	1	0	8.28177e-16	1	9.53976e-16	11	590				
SYCE1	93426	broad.mit.edu	37	10	135370646	135370646	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:135370646A>G	ENST00000343131.5	-	7	493	c.389T>C	c.(388-390)tTg>tCg	p.L130S	SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000368517.3_Missense_Mutation_p.L94S|SYCE1_ENST00000432597.2_Missense_Mutation_p.L94S	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	130					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GCACTCCTGCAACATGGTGTG	0.547																																						ENST00000368517.3																			0				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19						c.(280-282)tTg>tCg		synaptonemal complex central element protein 1							229.0	217.0	221.0					10																	135370646		2203	4300	6503	SO:0001583	missense	93426				cell division	central element		g.chr10:135370646A>G	AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"""cancer/testis antigen 76"""	611486	"""chromosome 10 open reading frame 94"""	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.389T>C	10.37:g.135370646A>G	ENSP00000341282:p.Leu130Ser					SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_Missense_Mutation_p.L130S|SYCE1_ENST00000432597.2_Missense_Mutation_p.L94S	p.L94S	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	7	419	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	130					B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP	ENST00000343131.5	37	c.281T>C	CCDS44501.1	.	.	.	.	.	.	.	.	.	.	A	8.244	0.807591	0.16467	.	.	ENSG00000171772	ENST00000303903;ENST00000432597;ENST00000368517;ENST00000343131	T;T;T;T	0.27890	1.64;3.26;3.26;3.26	4.3	4.3	0.51218	.	0.114911	0.37219	N	0.002193	T	0.33760	0.0874	L	0.28274	0.84	0.21652	N	0.99961	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.87578	0.998;0.976;0.965	T	0.14783	-1.0460	10	0.06099	T	0.92	-3.2344	10.1326	0.42687	1.0:0.0:0.0:0.0	.	2;130;94	Q8N0S2-3;Q8N0S2;Q8N0S2-2	.;SYCE1_HUMAN;.	S	130;94;94;130	ENSP00000303978:L130S;ENSP00000411779:L94S;ENSP00000357503:L94S;ENSP00000341282:L130S	ENSP00000303978:L130S	L	-	2	0	SYCE1	135220636	0.373000	0.25073	0.460000	0.27093	0.362000	0.29581	1.915000	0.39976	2.172000	0.68678	0.533000	0.62120	TTG		0.547	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_201564		253	468	0	0	0	1	0	253	468				
BUB1B	701	broad.mit.edu	37	15	40476084	40476084	+	Splice_Site	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:40476084G>C	ENST00000287598.6	+	6	946	c.751G>C	c.(751-753)Gct>Cct	p.A251P	BUB1B_ENST00000412359.3_Splice_Site_p.A265P	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	251					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TGCTCTCAAGGGTAAGTTTGT	0.388			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													ENST00000287598.6			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	"""Mis, N, F, S"""	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36						c.e6+1		BUB1 mitotic checkpoint serine/threonine kinase B							72.0	68.0	70.0					15																	40476084		2203	4300	6503	SO:0001630	splice_region_variant	701	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40476084G>C	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.751+1G>C	15.37:g.40476084G>C						BUB1B_ENST00000412359.3_Splice_Site_p.A265_splice	p.A251_splice	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	6	946	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	251					B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Splice_Site	SNP	ENST00000287598.6	37	c.751_splice	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303593	0.40795	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.15603	2.41;2.43	5.31	3.41	0.39046	.	0.512295	0.20336	N	0.094332	T	0.13756	0.0333	L	0.48362	1.52	0.40286	D	0.978453	B;B	0.17038	0.019;0.02	B;B	0.16289	0.015;0.007	T	0.07908	-1.0748	10	0.40728	T	0.16	-2.2377	5.1962	0.15239	0.0738:0.2701:0.5168:0.1393	.	265;251	O60566-3;O60566	.;BUB1B_HUMAN	P	251;265;197	ENSP00000287598:A251P;ENSP00000398470:A265P	ENSP00000287598:A251P	A	+	1	0	BUB1B	38263376	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	1.520000	0.35899	0.612000	0.30071	0.491000	0.48974	GCT		0.388	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4		Missense_Mutation	11	48	0	0	0	1	0	11	48				
CRISP3	10321	broad.mit.edu	37	6	49701422	49701422	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:49701422A>T	ENST00000393666.1	-	4	423	c.417T>A	c.(415-417)taT>taA	p.Y139*	CRISP3_ENST00000371159.4_Nonsense_Mutation_p.Y170*|CRISP3_ENST00000263045.4_Nonsense_Mutation_p.Y152*|CRISP3_ENST00000433368.2_Nonsense_Mutation_p.Y162*|CRISP3_ENST00000423399.2_Nonsense_Mutation_p.Y49*			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	139	SCP.				defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTACCTGTGTATAATGTCCAA	0.398																																						ENST00000433368.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27						c.(484-486)taT>taA		cysteine-rich secretory protein 3							115.0	108.0	110.0					6																	49701422		2203	4300	6503	SO:0001587	stop_gained	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49701422A>T	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.417T>A	6.37:g.49701422A>T	ENSP00000377274:p.Tyr139*					CRISP3_ENST00000263045.4_Nonsense_Mutation_p.Y152*|CRISP3_ENST00000371159.4_Nonsense_Mutation_p.Y170*|CRISP3_ENST00000423399.2_Nonsense_Mutation_p.Y49*|CRISP3_ENST00000393666.1_Nonsense_Mutation_p.Y139*	p.Y162*	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		5	555	-	Lung NSC(77;0.0161)		139					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Nonsense_Mutation	SNP	ENST00000393666.1	37	c.486T>A		.	.	.	.	.	.	.	.	.	.	A	17.56	3.420555	0.62622	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000423399;ENST00000371159;ENST00000354620	.	.	.	5.1	-4.85	0.03142	.	0.097074	0.42821	U	0.000655	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8995	0.58117	0.3646:0.0:0.6353:0.0	.	.	.	.	X	152;162;139;49;170;162	.	ENSP00000263045:Y152X	Y	-	3	2	CRISP3	49809381	0.907000	0.30839	0.611000	0.29010	0.686000	0.39977	-0.144000	0.10280	-0.985000	0.03503	0.477000	0.44152	TAT		0.398	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		8	675	0	0	0	1	0	8	675				
DIEXF	27042	broad.mit.edu	37	1	210001459	210001459	+	Silent	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:210001459T>A	ENST00000491415.2	+	1	108	c.51T>A	c.(49-51)acT>acA	p.T17T		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	17					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						ACACCCTAACTAAAAAGCAGA	0.547											OREG0014221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000491415.2																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						c.(49-51)acT>acA		digestive organ expansion factor homolog (zebrafish)							80.0	78.0	78.0					1																	210001459		2203	4300	6503	SO:0001819	synonymous_variant	27042				multicellular organismal development	nucleus		g.chr1:210001459T>A	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.51T>A	1.37:g.210001459T>A			OREG0014221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2187		p.T17T	NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN			1	108	+			17					O75992|Q4VY00|Q63HL9	Silent	SNP	ENST00000491415.2	37	c.51T>A	CCDS1493.1																																																																																				0.547	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		4	103	0	0	0	1	0	4	103				
ZSCAN25	221785	broad.mit.edu	37	7	99219088	99219088	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:99219088G>T	ENST00000394152.2	+	5	807	c.480G>T	c.(478-480)aaG>aaT	p.K160N	ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.K160N|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.K160N	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	160					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGGAGGTCAAGCCTGAATGGG	0.617																																						ENST00000394152.2																			0											c.(478-480)aaG>aaT		zinc finger and SCAN domain containing 25							67.0	64.0	65.0					7																	99219088		2203	4300	6503	SO:0001583	missense	221785							g.chr7:99219088G>T	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"""-"", ""Zinc fingers, C2H2-type"""	21961	protein-coding gene	gene with protein product			"""zinc finger protein 498"""	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.480G>T	7.37:g.99219088G>T	ENSP00000377708:p.Lys160Asn					ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.K160N|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.K160N	p.K160N	NM_145115.2	NP_660090.2					5	807	+								A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	ENST00000394152.2	37	c.480G>T	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546113	0.65198	.	.	ENSG00000197037	ENST00000394152;ENST00000334715;ENST00000262941	T;T;T	0.08807	3.09;3.09;3.05	5.08	3.25	0.37280	.	0.000000	0.50627	D	0.000105	T	0.12603	0.0306	N	0.24115	0.695	0.32578	N	0.528927	D;D	0.76494	0.999;0.997	D;D	0.83275	0.996;0.979	T	0.13361	-1.0512	10	0.17369	T	0.5	-43.4654	8.7764	0.34765	0.182:0.0:0.818:0.0	.	160;160	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	N	160	ENSP00000377708:K160N;ENSP00000334800:K160N;ENSP00000262941:K160N	ENSP00000262941:K160N	K	+	3	2	ZNF498	99057024	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	0.530000	0.23036	0.777000	0.33496	0.655000	0.94253	AAG		0.617	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		7	117	1	0	5.68852e-11	1	6.39081e-11	7	117				
PGPEP1L	145814	broad.mit.edu	37	15	99512729	99512729	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:99512729C>T	ENST00000378919.6	-	4	501	c.296G>A	c.(295-297)gGg>gAg	p.G99E	RP11-654A16.3_ENST00000559468.1_RNA|PGPEP1L_ENST00000535714.1_Missense_Mutation_p.G45E	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	99							cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						CATGCAGACCCCTGACTCCAG	0.627																																						ENST00000535714.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						c.(133-135)gGg>gAg		pyroglutamyl-peptidase I-like							128.0	134.0	132.0					15																	99512729		2193	4295	6488	SO:0001583	missense	145814				proteolysis		cysteine-type peptidase activity	g.chr15:99512729C>T		CCDS53977.1, CCDS58400.1	15q26.3	2010-02-16			ENSG00000183571	ENSG00000183571			27080	protein-coding gene	gene with protein product							Standard	NM_001102612		Approved		uc002bum.3	A6NFU8		ENST00000378919.6:c.296G>A	15.37:g.99512729C>T	ENSP00000368199:p.Gly99Glu					RP11-654A16.3_ENST00000559468.1_RNA|PGPEP1L_ENST00000378919.6_Missense_Mutation_p.G99E	p.G45E	NM_001167902.1	NP_001161374.1	A6NFU8	PGPIL_HUMAN			4	939	-			99					H0YF86	Missense_Mutation	SNP	ENST00000378919.6	37	c.134G>A	CCDS53977.1	.	.	.	.	.	.	.	.	.	.	C	0.982	-0.696607	0.03279	.	.	ENSG00000183571	ENST00000378919;ENST00000535714	T	0.39592	1.07	4.37	-7.26	0.01466	.	1.790320	0.02961	N	0.143103	T	0.17152	0.0412	N	0.17594	0.5	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.29458	-1.0011	10	0.02654	T	1	-21.4813	1.3568	0.02184	0.4006:0.1228:0.1101:0.3665	.	99	A6NFU8	PGPIL_HUMAN	E	99;92	ENSP00000368199:G99E	ENSP00000368199:G99E	G	-	2	0	PGPEP1L	97330252	0.000000	0.05858	0.002000	0.10522	0.033000	0.12548	0.106000	0.15354	-1.102000	0.03023	-0.890000	0.02929	GGG		0.627	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415703.1	NM_001102612.2		8	862	0	0	0	1	0	8	862				
UBR5	51366	broad.mit.edu	37	8	103293529	103293529	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:103293529A>T	ENST00000520539.1	-	41	6521	c.5915T>A	c.(5914-5916)cTa>cAa	p.L1972Q	UBR5_ENST00000220959.4_Missense_Mutation_p.L1972Q|UBR5_ENST00000521922.1_Missense_Mutation_p.L1966Q	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1972					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTTGCGTTCTAGTTGAGGTGT	0.373																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(5914-5916)cTa>cAa		ubiquitin protein ligase E3 component n-recognin 5							104.0	83.0	90.0					8																	103293529		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103293529A>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5915T>A	8.37:g.103293529A>T	ENSP00000429084:p.Leu1972Gln					UBR5_ENST00000220959.4_Missense_Mutation_p.L1972Q|UBR5_ENST00000521922.1_Missense_Mutation_p.L1966Q	p.L1972Q	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		41	6521	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1972					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.5915T>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.323435	0.41096	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.44482	0.92;0.92;0.92	4.73	4.73	0.59995	.	0.137485	0.48286	D	0.000192	T	0.23727	0.0574	N	0.14661	0.345	0.47659	D	0.999485	P;P	0.37864	0.61;0.61	B;B	0.29524	0.103;0.103	T	0.07065	-1.0792	10	0.32370	T	0.25	.	14.21	0.65759	1.0:0.0:0.0:0.0	.	1966;1972	E7EMW7;O95071	.;UBR5_HUMAN	Q	1972;1972;1966	ENSP00000429084:L1972Q;ENSP00000220959:L1972Q;ENSP00000427819:L1966Q	ENSP00000220959:L1972Q	L	-	2	0	UBR5	103362705	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.284000	0.95882	1.747000	0.51819	0.460000	0.39030	CTA		0.373	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		8	192	0	0	0	1	0	8	192				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240794	39240794	+	Silent	SNP	C	C	A	rs9894106|rs553572799	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:39240794C>A	ENST00000391417.4	+	1	336	c.336C>A	c.(334-336)ccC>ccA	p.P112P		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	137	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.R111_C115delRPSCC(1)|p.P112P(1)|p.?(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						gctgccgccccagctgctgcc	0.667																																						ENST00000391417.4																			3	Unknown(1)|Substitution - coding silent(1)|Deletion - In frame(1)	p.R111_C115delRPSCC(1)|p.P112P(1)|p.?(1)	NS(2)|prostate(1)	NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(334-336)ccC>ccA		keratin associated protein 4-7							13.0	14.0	14.0					17																	39240794		691	1589	2280	SO:0001819	synonymous_variant	100132476							g.chr17:39240794C>A	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.336C>A	17.37:g.39240794C>A							p.P112P	NM_033061.3	NP_149050.3					1	336	+								A0AVM6|A8MQ08|A8MTL4	Silent	SNP	ENST00000391417.4	37	c.336C>A	CCDS45673.1																																																																																				0.667	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			4	17	1	0	0.217242	1	0.219656	4	17				
NEK3	4752	broad.mit.edu	37	13	52728066	52728066	+	Silent	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:52728066A>T	ENST00000400357.2	-	3	1566	c.273T>A	c.(271-273)atT>atA	p.I91I	NEK3_ENST00000339406.3_Silent_p.I91I|NEK3_ENST00000378101.2_Silent_p.I91I|NEK3_ENST00000452082.2_Silent_p.I112I			P51956	NEK3_HUMAN	NIMA-related kinase 3	91	Interaction with VAV2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TCTGCTGTTTAATCTTTTGCA	0.353																																						ENST00000452082.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18						c.(334-336)atT>atA		NIMA-related kinase 3							160.0	156.0	158.0					13																	52728066		1838	4090	5928	SO:0001819	synonymous_variant	4752				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:52728066A>T	AK290259, BC019916	CCDS73576.1	13q14.2-q21.1	2014-07-17	2012-11-15		ENSG00000136098	ENSG00000136098	2.7.11.1		7746	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase NEK3"", ""phosphorylase B kinase kinase"", ""glycogen synthase A kinase"", ""hydroxyalkyl-protein kinase"""	604044	"""NIMA (never in mitosis gene a)-related kinase 3"""			8274451, 7522034	Standard	NM_002498		Approved	HSPK36, MGC29949	uc010tgy.2	P51956	OTTHUMG00000016958	ENST00000400357.2:c.273T>A	13.37:g.52728066A>T						NEK3_ENST00000400357.2_Silent_p.I91I|NEK3_ENST00000339406.3_Silent_p.I91I|NEK3_ENST00000378101.2_Silent_p.I91I	p.I112I			P51956	NEK3_HUMAN		GBM - Glioblastoma multiforme(99;2.81e-08)	3	1566	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)	91			Interaction with VAV2.|Protein kinase.		A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Silent	SNP	ENST00000400357.2	37	c.336T>A	CCDS53871.1																																																																																				0.353	NEK3-002	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045047.3			5	151	0	0	0	1	0	5	151				
TAS2R3	50831	broad.mit.edu	37	7	141464695	141464695	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:141464695A>T	ENST00000247879.2	+	1	799	c.737A>T	c.(736-738)tAc>tTc	p.Y246F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	246					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ttcttactttactttcttgct	0.418																																						ENST00000247879.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14						c.(736-738)tAc>tTc		taste receptor, type 2, member 3							93.0	84.0	87.0					7																	141464695		2203	4300	6503	SO:0001583	missense	50831				sensory perception of taste		taste receptor activity	g.chr7:141464695A>T	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.737A>T	7.37:g.141464695A>T	ENSP00000247879:p.Tyr246Phe					SSBP1_ENST00000465582.1_Intron	p.Y246F	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN			1	799	+	Melanoma(164;0.0171)		246					A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	c.737A>T	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	A	15.62	2.886789	0.51908	.	.	ENSG00000127362	ENST00000247879	T	0.01172	5.23	5.71	5.71	0.89125	.	0.146929	0.44097	D	0.000497	T	0.04588	0.0125	L	0.59967	1.855	0.24084	N	0.995936	D	0.89917	1.0	D	0.87578	0.998	T	0.26326	-1.0106	10	0.87932	D	0	.	8.4777	0.33023	0.914:0.0:0.086:0.0	.	246	Q9NYW6	TA2R3_HUMAN	F	246	ENSP00000247879:Y246F	ENSP00000247879:Y246F	Y	+	2	0	TAS2R3	141111164	0.776000	0.28616	0.946000	0.38457	0.325000	0.28411	3.110000	0.50352	2.180000	0.69256	0.455000	0.32223	TAC		0.418	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			5	236	0	0	0	1	0	5	236				
FRYL	285527	broad.mit.edu	37	4	48523234	48523234	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:48523234T>A	ENST00000503238.1	-	52	7521		c.e52-2		FRYL_ENST00000537810.1_Splice_Site|FRYL_ENST00000507873.2_Splice_Site|FRYL_ENST00000358350.4_Splice_Site|FRYL_ENST00000264319.7_Splice_Site			O94915	FRYL_HUMAN	FRY-like						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ACTGTTTAACTAAAAAGAGAA	0.373																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.e55-2		FRY-like							83.0	77.0	79.0					4																	48523234		1846	4091	5937	SO:0001630	splice_region_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48523234T>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.7522-2A>T	4.37:g.48523234T>A						FRYL_ENST00000507873.2_Splice_Site|FRYL_ENST00000358350.4_Splice_Site|FRYL_ENST00000503238.1_Splice_Site|FRYL_ENST00000264319.7_Splice_Site				O94915	FRYL_HUMAN			55	8126	-								O95640|Q8WTZ5|Q9NT40	Splice_Site	SNP	ENST00000503238.1	37		CCDS43227.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.743302	0.49151	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000514617	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7555	0.78021	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FRYL	48217991	1.000000	0.71417	0.198000	0.23420	0.024000	0.10985	7.698000	0.84413	2.126000	0.65437	0.460000	0.39030	.		0.373	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		Intron	7	90	0	0	0	1	0	7	90				
SPRED1	161742	broad.mit.edu	37	15	38631947	38631947	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:38631947G>C	ENST00000299084.4	+	5	1293	c.433G>C	c.(433-435)Gag>Cag	p.E145Q		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	145					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GGCAAATGAAGAGGATTCTTC	0.388									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)	ENST00000299084.4																			0				kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(433-435)Gag>Cag		sprouty-related, EVH1 domain containing 1							105.0	101.0	102.0					15																	38631947		2200	4297	6497	SO:0001583	missense	161742	Legius syndrome	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding	g.chr15:38631947G>C	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.433G>C	15.37:g.38631947G>C	ENSP00000299084:p.Glu145Gln						p.E145Q	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	5	1293	+		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)	145					B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	ENST00000299084.4	37	c.433G>C	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655752	0.67586	.	.	ENSG00000166068	ENST00000299084	T	0.73789	-0.78	4.6	4.6	0.57074	.	0.461649	0.24866	N	0.034980	T	0.75019	0.3793	L	0.53249	1.67	0.48087	D	0.999584	D	0.60160	0.987	P	0.50352	0.638	T	0.71692	-0.4516	10	0.17369	T	0.5	-5.5179	15.9561	0.79889	0.0:0.0:1.0:0.0	.	145	Q7Z699	SPRE1_HUMAN	Q	145	ENSP00000299084:E145Q	ENSP00000299084:E145Q	E	+	1	0	SPRED1	36419239	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.338000	0.72963	2.265000	0.75225	0.585000	0.79938	GAG		0.388	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1			3	91	0	0	0	1	0	3	91				
RORA	6095	broad.mit.edu	37	15	60806849	60806849	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:60806849T>A	ENST00000335670.6	-	4	490	c.390A>T	c.(388-390)ttA>ttT	p.L130F	RORA_ENST00000449337.2_Missense_Mutation_p.L75F|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000560004.1_5'UTR|RP11-219B17.1_ENST00000559902.1_RNA|RORA_ENST00000261523.5_Missense_Mutation_p.L163F|RORA_ENST00000309157.4_Missense_Mutation_p.L155F|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000558235.1_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	130					angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GGCATTTCTGTAATCGACAGT	0.498																																						ENST00000335670.6																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(388-390)ttA>ttT		RAR-related orphan receptor A							238.0	211.0	221.0					15																	60806849		2203	4300	6503	SO:0001583	missense	6095				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr15:60806849T>A	U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"""Nuclear hormone receptors"""	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.390A>T	15.37:g.60806849T>A	ENSP00000335087:p.Leu130Phe					RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000261523.5_Missense_Mutation_p.L163F|RP11-219B17.1_ENST00000501579.2_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.L75F|RORA_ENST00000309157.4_Missense_Mutation_p.L155F|RORA_ENST00000560004.1_5'UTR|RP11-219B17.1_ENST00000559902.1_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA	p.L130F	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN			4	490	-			163					P35397|P35399|P45445|Q495X4|Q96H83	Missense_Mutation	SNP	ENST00000335670.6	37	c.390A>T	CCDS10177.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.478147	0.84747	.	.	ENSG00000069667	ENST00000335670;ENST00000449337;ENST00000309157;ENST00000261523	D;D;D;D	0.97688	-4.49;-4.49;-4.49;-4.49	6.17	-0.878	0.10617	Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.95198	0.8443	N	0.12422	0.21	0.80722	D	1	D;D;D;D	0.89917	0.999;0.993;1.0;1.0	D;P;D;D	0.97110	0.992;0.908;1.0;1.0	D	0.90449	0.4437	10	0.21014	T	0.42	.	7.1061	0.25364	0.0:0.4047:0.1232:0.472	.	130;155;163;75	P35398-2;P35398-3;P35398;P35398-4	.;.;RORA_HUMAN;.	F	130;75;155;163	ENSP00000335087:L130F;ENSP00000402971:L75F;ENSP00000309753:L155F;ENSP00000261523:L163F	ENSP00000261523:L163F	L	-	3	2	RORA	58594141	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	0.978000	0.29488	-0.083000	0.12618	0.533000	0.62120	TTA		0.498	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2			227	470	0	0	0	1	0	227	470				
HAT1	8520	broad.mit.edu	37	2	172841199	172841199	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:172841199C>T	ENST00000264108.4	+	9	963	c.927C>T	c.(925-927)ttC>ttT	p.F309F	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Silent_p.F224F	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	309					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TGCAAGGATTCAATGAAGATA	0.333																																						ENST00000264108.4																			0				breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19						c.(925-927)ttC>ttT		histone acetyltransferase 1							68.0	67.0	67.0					2																	172841199		2203	4300	6503	SO:0001819	synonymous_variant	8520				chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding	g.chr2:172841199C>T	AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"""	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.927C>T	2.37:g.172841199C>T						SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Silent_p.F224F	p.F309F	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		9	963	+			309					Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Silent	SNP	ENST00000264108.4	37	c.927C>T	CCDS2245.1																																																																																				0.333	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1	NM_003642		3	54	0	0	0	1	0	3	54				
ARHGEF7	8874	broad.mit.edu	37	13	111933013	111933013	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:111933013C>T	ENST00000375741.2	+	16	2027	c.1777C>T	c.(1777-1779)Cca>Tca	p.P593S	ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.P415S|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.P572S|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.P415S|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.P337S|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.P490S|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.P415S|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.P415S|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.P543S|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.P500S	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	593					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCATTCAGTGCCATCTCATAC	0.532																																						ENST00000375741.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41						c.(1777-1779)Cca>Tca		Rho guanine nucleotide exchange factor (GEF) 7							205.0	154.0	171.0					13																	111933013		2203	4300	6503	SO:0001583	missense	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111933013C>T	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.1777C>T	13.37:g.111933013C>T	ENSP00000364893:p.Pro593Ser					ARHGEF7_ENST00000370623.3_Missense_Mutation_p.P500S|ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.P490S|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.P415S|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.P572S|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.P415S|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.P415S|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.P337S|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.P415S|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.P543S	p.P593S	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		16	2027	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		593					B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	c.1777C>T	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	C	8.182	0.793976	0.16327	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000466143;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	T;T;T;T;T;T;T;T;T;T;T	0.61980	0.67;0.68;0.68;0.67;0.72;0.64;0.67;0.67;0.71;0.62;0.06	4.97	4.13	0.48395	.	0.054847	0.85682	D	0.000000	T	0.67730	0.2924	L	0.51422	1.61	0.80722	D	1	B;B;D;B;P	0.89917	0.112;0.046;1.0;0.22;0.51	B;B;D;B;B	0.91635	0.023;0.019;0.999;0.034;0.279	T	0.63998	-0.6510	10	0.12430	T	0.62	.	8.0573	0.30612	0.1578:0.762:0.0:0.0801	.	337;490;543;593;572	E9PDQ5;B7Z6G2;Q14155-2;Q14155;Q14155-3	.;.;.;ARHG7_HUMAN;.	S	572;593;543;500;570;415;415;415;415;490;415;337	ENSP00000325994:P572S;ENSP00000364893:P593S;ENSP00000364891:P543S;ENSP00000359657:P500S;ENSP00000418067:P415S;ENSP00000218789:P415S;ENSP00000364888:P415S;ENSP00000397068:P415S;ENSP00000364889:P490S;ENSP00000364875:P415S;ENSP00000417596:P337S	ENSP00000218789:P415S	P	+	1	0	ARHGEF7	110731014	1.000000	0.71417	0.016000	0.15963	0.003000	0.03518	6.912000	0.75753	1.081000	0.41110	0.650000	0.86243	CCA		0.532	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		5	414	0	0	0	1	0	5	414				
ADAM11	4185	broad.mit.edu	37	17	42850678	42850678	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:42850678C>T	ENST00000200557.6	+	11	1044	c.875C>T	c.(874-876)aCa>aTa	p.T292I	ADAM11_ENST00000535346.1_Missense_Mutation_p.T92I	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	292	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GCCATGGAAACATGGGCAGAT	0.612																																						ENST00000200557.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(874-876)aCa>aTa		ADAM metallopeptidase domain 11							130.0	116.0	121.0					17																	42850678		2203	4300	6503	SO:0001583	missense	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42850678C>T	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.875C>T	17.37:g.42850678C>T	ENSP00000200557:p.Thr292Ile					ADAM11_ENST00000535346.1_Missense_Mutation_p.T92I	p.T292I	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN			11	1044	+		Prostate(33;0.0959)	292			Peptidase M12B.		Q14808|Q14809|Q14810	Missense_Mutation	SNP	ENST00000200557.6	37	c.875C>T	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803121	0.50315	.	.	ENSG00000073670	ENST00000200557;ENST00000535346;ENST00000355638	T;T	0.57273	0.41;0.41	4.77	4.77	0.60923	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.48750	0.1517	N	0.08118	0	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.972;1.0	T	0.38714	-0.9648	10	0.02654	T	1	.	16.7331	0.85440	0.0:1.0:0.0:0.0	.	92;292	B4DKD2;O75078	.;ADA11_HUMAN	I	292;92;192	ENSP00000200557:T292I;ENSP00000443773:T92I	ENSP00000200557:T292I	T	+	2	0	ADAM11	40206204	1.000000	0.71417	0.993000	0.49108	0.011000	0.07611	7.630000	0.83225	2.478000	0.83669	0.561000	0.74099	ACA		0.612	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390		17	62	0	0	0	1	0	17	62				
ARHGEF10	9639	broad.mit.edu	37	8	1791575	1791575	+	Silent	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:1791575C>A	ENST00000398564.1	+	2	82	c.82C>A	c.(82-84)Cga>Aga	p.R28R	ARHGEF10_ENST00000262112.6_Silent_p.R28R|ARHGEF10_ENST00000398560.1_Silent_p.R28R|ARHGEF10_ENST00000349830.3_Silent_p.R4R|ARHGEF10_ENST00000520359.1_Silent_p.R4R|ARHGEF10_ENST00000518288.1_Silent_p.R28R			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	28					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CATGGACCAGCGAGAGCCCCT	0.582																																						ENST00000518288.1																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(82-84)Cga>Aga		Rho guanine nucleotide exchange factor (GEF) 10							51.0	43.0	46.0					8																	1791575		2203	4300	6503	SO:0001819	synonymous_variant	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1791575C>A	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.82C>A	8.37:g.1791575C>A						ARHGEF10_ENST00000262112.6_Silent_p.R28R|ARHGEF10_ENST00000520359.1_Silent_p.R4R|ARHGEF10_ENST00000398560.1_Silent_p.R28R|ARHGEF10_ENST00000398564.1_Silent_p.R28R|ARHGEF10_ENST00000349830.3_Silent_p.R4R	p.R28R			O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	3	245	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	28					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37	c.82C>A																																																																																					0.582	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				5	74	1	0	3.09899e-07	1	3.38748e-07	5	74				
TCOF1	6949	broad.mit.edu	37	5	149769510	149769510	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:149769510G>T	ENST00000504761.2	+	19	3107	c.3107G>T	c.(3106-3108)aGc>aTc	p.S1036I	TCOF1_ENST00000439160.2_Missense_Mutation_p.S1036I|TCOF1_ENST00000513346.1_Missense_Mutation_p.S1073I|TCOF1_ENST00000451292.1_Missense_Mutation_p.S1073I|TCOF1_ENST00000377797.3_Missense_Mutation_p.S1036I|TCOF1_ENST00000445265.2_Missense_Mutation_p.S959I|TCOF1_ENST00000323668.7_Missense_Mutation_p.S959I			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1036					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCAAAGCCAGCATGGCTGGG	0.582																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(3217-3219)aGc>aTc		Treacher Collins-Franceschetti syndrome 1							59.0	55.0	57.0					5																	149769510		2203	4300	6503	SO:0001583	missense	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149769510G>T		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3107G>T	5.37:g.149769510G>T	ENSP00000421655:p.Ser1036Ile					TCOF1_ENST00000504761.2_Missense_Mutation_p.S1036I|TCOF1_ENST00000377797.3_Missense_Mutation_p.S1036I|TCOF1_ENST00000445265.2_Missense_Mutation_p.S959I|TCOF1_ENST00000323668.7_Missense_Mutation_p.S959I|TCOF1_ENST00000439160.2_Missense_Mutation_p.S1036I|TCOF1_ENST00000513346.1_Missense_Mutation_p.S1073I	p.S1073I			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		20	3326	+		all_hematologic(541;0.224)	1036					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	c.3218G>T	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419195	0.25552	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T	0.76578	-0.98;-0.96;-0.96;-0.96;-0.62;-1.03;-0.96;-0.95	2.22	1.33	0.21861	.	.	.	.	.	T	0.69744	0.3145	L	0.48642	1.525	0.09310	N	1	P;P;P;D;P	0.54772	0.902;0.902;0.902;0.968;0.902	P;P;P;P;P	0.44811	0.461;0.461;0.461;0.452;0.461	T	0.61053	-0.7140	9	0.72032	D	0.01	.	4.989	0.14205	0.1799:0.0:0.8201:0.0	.	1036;959;1036;1036;959	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;TCOF_HUMAN;.	I	1073;1036;959;959;1036;1036;1036;1073	ENSP00000400939:S1073I;ENSP00000367028:S1036I;ENSP00000409944:S959I;ENSP00000325223:S959I;ENSP00000406888:S1036I;ENSP00000390717:S1036I;ENSP00000421655:S1036I;ENSP00000427484:S1073I	ENSP00000325223:S959I	S	+	2	0	TCOF1	149749703	0.012000	0.17670	0.035000	0.18076	0.007000	0.05969	0.692000	0.25482	0.486000	0.27676	-0.157000	0.13467	AGC		0.582	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		42	37	1	0	2.54085e-39	1	3.00282e-39	42	37				
PRKDC	5591	broad.mit.edu	37	8	48840368	48840368	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:48840368A>G	ENST00000314191.2	-	20	2278	c.2222T>C	c.(2221-2223)aTt>aCt	p.I741T	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.I741T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	741					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ATCGAGTTCAATGATGTTGTG	0.448								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(2221-2223)aTt>aCt	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							125.0	131.0	129.0					8																	48840368		2024	4172	6196	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48840368A>G		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.2222T>C	8.37:g.48840368A>G	ENSP00000313420:p.Ile741Thr					PRKDC_ENST00000338368.3_Missense_Mutation_p.I741T|PRKDC_ENST00000523565.1_5'UTR	p.I741T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			20	2278	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	741					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.2222T>C		.	.	.	.	.	.	.	.	.	.	A	16.46	3.129763	0.56721	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02863	4.2;4.13	5.35	5.35	0.76521	Armadillo-type fold (1);	0.225114	0.37809	N	0.001933	T	0.12178	0.0296	.	.	.	0.47584	D	0.999462	D;D;D	0.59357	0.985;0.975;0.975	P;P;P	0.59171	0.853;0.717;0.717	T	0.00200	-1.1927	9	0.87932	D	0	.	15.6202	0.76799	1.0:0.0:0.0:0.0	.	741;741;741	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	T	741	ENSP00000313420:I741T;ENSP00000345182:I741T	ENSP00000313420:I741T	I	-	2	0	PRKDC	49002921	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	8.655000	0.91098	2.145000	0.66743	0.460000	0.39030	ATT		0.448	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		57	56	0	0	0	1	0	57	56				
CDH7	1005	broad.mit.edu	37	18	63547747	63547747	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr18:63547747G>T	ENST00000397968.2	+	12	2401	c.1975G>T	c.(1975-1977)Gga>Tga	p.G659*	CDH7_ENST00000323011.3_Nonsense_Mutation_p.G659*	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	659					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CGAGGGCGGGGGAGAGGAGGA	0.478																																						ENST00000397968.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(1975-1977)Gga>Tga		cadherin 7, type 2							71.0	73.0	72.0					18																	63547747		2203	4300	6503	SO:0001587	stop_gained	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63547747G>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1975G>T	18.37:g.63547747G>T	ENSP00000381058:p.Gly659*					CDH7_ENST00000323011.3_Nonsense_Mutation_p.G659*	p.G659*	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN			12	2401	+		Esophageal squamous(42;0.129)	659					Q9H157	Nonsense_Mutation	SNP	ENST00000397968.2	37	c.1975G>T	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	38	6.816877	0.97861	.	.	ENSG00000081138	ENST00000323011;ENST00000397966;ENST00000397968	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6378	0.95744	0.0:0.0:1.0:0.0	.	.	.	.	X	659	.	ENSP00000319166:G659X	G	+	1	0	CDH7	61698727	1.000000	0.71417	0.647000	0.29507	0.077000	0.17291	9.869000	0.99810	2.631000	0.89168	0.655000	0.94253	GGA		0.478	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		4	38	1	0	0.0293803	1	0.0302103	4	38				
WDR3	10885	broad.mit.edu	37	1	118493455	118493455	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:118493455A>T	ENST00000349139.5	+	16	1793		c.e16-1			NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3							nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTTGATGTTTAGTTTTTTCTG	0.269																																						ENST00000349139.4																			0				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49						c.e16-1		WD repeat domain 3							193.0	191.0	191.0					1																	118493455		2202	4299	6501	SO:0001630	splice_region_variant	10885					nuclear membrane|nucleolus		g.chr1:118493455A>T	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.1747-1A>T	1.37:g.118493455A>T								NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	16	1793	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)							Splice_Site	SNP	ENST00000349139.5	37		CCDS898.1	.	.	.	.	.	.	.	.	.	.	A	19.57	3.852063	0.71719	.	.	ENSG00000065183	ENST00000349139	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3077	0.66395	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR3	118294978	1.000000	0.71417	0.997000	0.53966	0.848000	0.48234	8.484000	0.90445	2.163000	0.67991	0.455000	0.32223	.		0.269	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784	Intron	6	101	0	0	0	1	0	6	101				
KBTBD8	84541	broad.mit.edu	37	3	67054669	67054669	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:67054669G>A	ENST00000417314.2	+	3	1327	c.1278G>A	c.(1276-1278)gcG>gcA	p.A426A	KBTBD8_ENST00000295568.4_Silent_p.A400A|KBTBD8_ENST00000460576.1_Intron			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	426						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CTGTTTGCGCGATGCCAGTTG	0.423																																						ENST00000295568.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20						c.(1198-1200)gcG>gcA		kelch repeat and BTB (POZ) domain containing 8							186.0	172.0	177.0					3																	67054669		2203	4300	6503	SO:0001819	synonymous_variant	84541							g.chr3:67054669G>A	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1278G>A	3.37:g.67054669G>A						KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Silent_p.A426A	p.A400A	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	3	1331	+		Lung NSC(201;0.0765)	426					B4DTW6|Q96JI5	Silent	SNP	ENST00000417314.2	37	c.1200G>A	CCDS2906.2																																																																																				0.423	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		5	442	0	0	0	1	0	5	442				
CNGA2	1260	broad.mit.edu	37	X	150912404	150912404	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:150912404C>T	ENST00000329903.4	+	6	1462	c.1429C>T	c.(1429-1431)Cct>Tct	p.P477S		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	477					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCttcagtcctggggatta	0.517																																						ENST00000329903.4																			0				breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49						c.(1429-1431)Cct>Tct		cyclic nucleotide gated channel alpha 2							116.0	100.0	106.0					X																	150912404		2203	4300	6503	SO:0001583	missense	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150912404C>T	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1429C>T	X.37:g.150912404C>T	ENSP00000328478:p.Pro477Ser						p.P477S	NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN			6	1462	+	Acute lymphoblastic leukemia(192;6.56e-05)		477					A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.1429C>T	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354940	0.41700	.	.	ENSG00000183862	ENST00000329903	D	0.97430	-4.38	5.33	5.33	0.75918	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.98523	0.9507	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99719	1.1009	10	0.87932	D	0	.	15.3498	0.74373	0.0:1.0:0.0:0.0	.	477	Q16280	CNGA2_HUMAN	S	477	ENSP00000328478:P477S	ENSP00000328478:P477S	P	+	1	0	CNGA2	150663060	1.000000	0.71417	0.998000	0.56505	0.352000	0.29268	7.487000	0.81328	2.216000	0.71823	0.529000	0.55759	CCT		0.517	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		12	299	0	0	0	1	0	12	299				
IGLL1	3543	broad.mit.edu	37	22	23915501	23915501	+	Silent	SNP	G	G	A	rs1064418	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:23915501G>A	ENST00000330377.2	-	3	711	c.594C>T	c.(592-594)caC>caT	p.H198H	AP000345.2_ENST00000454863.1_RNA|AP000345.2_ENST00000458318.1_RNA|IGLL1_ENST00000249053.3_3'UTR	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	198	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.H198H(1)		kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						TGCTCCCTTCGTGCATGACCT	0.632													g|||	2	0.000399361	0.0008	0.0	5008	,	,		17185	0.001		0.0	False		,,,				2504	0.0					ENST00000330377.2																			1	Substitution - coding silent(1)	p.H198H(1)	kidney(1)	kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						c.(592-594)caC>caT		immunoglobulin lambda-like polypeptide 1							73.0	69.0	71.0					22																	23915501		2203	4300	6503	SO:0001819	synonymous_variant	3543				immune response	extracellular region|membrane		g.chr22:23915501G>A	X52204	CCDS13809.1, CCDS13810.1	22q11.23	2014-09-17			ENSG00000128322	ENSG00000128322		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	5870	protein-coding gene	gene with protein product		146770		IGLL		3139558, 2511029	Standard	NM_020070		Approved	IGVPB, IGL5, 14.1, CD179B	uc002zxd.3	P15814	OTTHUMG00000150673	ENST00000330377.2:c.594C>T	22.37:g.23915501G>A						AP000345.2_ENST00000458318.1_RNA|IGLL1_ENST00000249053.3_3'UTR	p.H198H	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN			3	711	-			198			C region (By similarity to lambda light- chain).|Ig-like C1-type.		Q0P681	Silent	SNP	ENST00000330377.2	37	c.594C>T	CCDS13809.1																																																																																				0.632	IGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319569.1	NM_020070		5	302	0	0	0	1	0	5	302				
VARS2	57176	broad.mit.edu	37	6	30890728	30890728	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:30890728C>A	ENST00000321897.5	+	22	2792	c.2160C>A	c.(2158-2160)ttC>ttA	p.F720L	VARS2_ENST00000542001.1_Missense_Mutation_p.F580L|VARS2_ENST00000541562.1_Missense_Mutation_p.F750L|VARS2_ENST00000416670.2_Missense_Mutation_p.F720L|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	720					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CCCTGAGATTCACACTCTGCT	0.612																																						ENST00000321897.5																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(2158-2160)ttC>ttA		valyl-tRNA synthetase 2, mitochondrial							93.0	100.0	98.0					6																	30890728		1509	2708	4217	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30890728C>A	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2160C>A	6.37:g.30890728C>A	ENSP00000316092:p.Phe720Leu					VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000416670.2_Missense_Mutation_p.F720L|VARS2_ENST00000542001.1_Missense_Mutation_p.F580L|VARS2_ENST00000541562.1_Missense_Mutation_p.F750L	p.F720L			Q5ST30	SYVM_HUMAN			22	2792	+			720					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.2160C>A	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.915096	0.52546	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.37	-2.03	0.07365	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.096084	0.64402	D	0.000001	T	0.16896	0.0406	L	0.41027	1.25	0.30821	N	0.737783	P;P;B;D	0.55385	0.867;0.504;0.161;0.971	P;B;B;P	0.51487	0.671;0.34;0.209;0.649	T	0.15896	-1.0421	10	0.87932	D	0	-23.9831	11.376	0.49728	0.0:0.384:0.0:0.616	.	158;718;750;720	Q5ST30-2;B7ZL25;F5GXJ0;Q5ST30	.;.;.;SYVM_HUMAN	L	720;720;580;750	ENSP00000316092:F720L;ENSP00000394802:F720L;ENSP00000438200:F580L;ENSP00000441000:F750L	ENSP00000316092:F720L	F	+	3	2	VARS2	30998707	0.000000	0.05858	0.010000	0.14722	0.963000	0.63663	-0.865000	0.04250	-0.705000	0.05035	-0.258000	0.10820	TTC		0.612	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		130	158	1	0	1.55176e-64	1	1.86416e-64	130	158				
FOXRED2	80020	broad.mit.edu	37	22	36892016	36892016	+	Missense_Mutation	SNP	G	G	T	rs376453305		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:36892016G>T	ENST00000397224.4	-	7	1715	c.1622C>A	c.(1621-1623)aCc>aAc	p.T541N	FOXRED2_ENST00000366463.3_Missense_Mutation_p.T93N|FOXRED2_ENST00000216187.6_Missense_Mutation_p.T541N|FOXRED2_ENST00000397223.4_Missense_Mutation_p.T541N	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	541					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTGCTCACCGGTGGGGAGGTA	0.542																																						ENST00000397224.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1621-1623)aCc>aAc		FAD-dependent oxidoreductase domain containing 2							96.0	92.0	94.0					22																	36892016		2203	4300	6503	SO:0001583	missense	80020				ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chr22:36892016G>T	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1622C>A	22.37:g.36892016G>T	ENSP00000380401:p.Thr541Asn					FOXRED2_ENST00000366463.3_Missense_Mutation_p.T93N|FOXRED2_ENST00000216187.6_Missense_Mutation_p.T541N|FOXRED2_ENST00000397223.4_Missense_Mutation_p.T541N	p.T541N	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN			7	1715	-			541					B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	ENST00000397224.4	37	c.1622C>A	CCDS13929.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538925	0.65085	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000366463;ENST00000397223	T;T;T;T	0.49432	2.39;2.39;0.78;2.39	5.52	5.52	0.82312	.	0.047591	0.85682	D	0.000000	T	0.50888	0.1642	M	0.61703	1.905	0.80722	D	1	P	0.45902	0.868	B	0.41036	0.346	T	0.56420	-0.7982	10	0.54805	T	0.06	-30.5522	19.4887	0.95040	0.0:0.0:1.0:0.0	.	541	Q8IWF2	FXRD2_HUMAN	N	541;541;93;541	ENSP00000380401:T541N;ENSP00000216187:T541N;ENSP00000382543:T93N;ENSP00000380400:T541N	ENSP00000216187:T541N	T	-	2	0	FOXRED2	35221962	1.000000	0.71417	0.998000	0.56505	0.773000	0.43773	8.714000	0.91412	2.607000	0.88179	0.650000	0.86243	ACC		0.542	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2	NM_024955		83	146	1	0	9.47799e-51	1	1.13486e-50	83	146				
VPS33A	65082	broad.mit.edu	37	12	122723269	122723269	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:122723269G>T	ENST00000267199.4	-	10	1279	c.1167C>A	c.(1165-1167)gtC>gtA	p.V389V	RP11-512M8.5_ENST00000535844.1_Silent_p.V350V	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	389					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TGTAATTGTTGACCTGGAAAT	0.383																																						ENST00000267199.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28						c.(1165-1167)gtC>gtA		vacuolar protein sorting 33 homolog A (S. cerevisiae)							139.0	124.0	129.0					12																	122723269		2203	4300	6503	SO:0001819	synonymous_variant	65082				lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr12:122723269G>T	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.1167C>A	12.37:g.122723269G>T						RP11-512M8.5_ENST00000535844.1_Silent_p.V350V	p.V389V	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)	10	1279	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		389					Q547V4|Q9H5Q0	Silent	SNP	ENST00000267199.4	37	c.1167C>A	CCDS9231.1																																																																																				0.383	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2			9	145	1	0	1.58986e-06	1	1.70711e-06	9	145				
SLC16A4	9122	broad.mit.edu	37	1	110919782	110919782	+	Splice_Site	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:110919782A>G	ENST00000369779.4	-	7	1281	c.1032T>C	c.(1030-1032)ggT>ggC	p.G344G	SLC16A4_ENST00000497687.1_5'Flank|SLC16A4_ENST00000541986.1_Splice_Site_p.G282G|SLC16A4_ENST00000369781.4_Splice_Site_p.G176G|SLC16A4_ENST00000437429.2_Splice_Site_p.G234G|SLC16A4_ENST00000472422.2_Splice_Site_p.G296G	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	344					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	TCTCAAGGATACCTGGAACAA	0.398																																						ENST00000369779.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16						c.e7-1		solute carrier family 16, member 4	Pyruvic acid(DB00119)						139.0	132.0	135.0					1																	110919782		2203	4300	6503	SO:0001630	splice_region_variant	9122					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr1:110919782A>G	U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"""Solute carriers"""	10925	protein-coding gene	gene with protein product		603878	"""solute carrier family 16 (monocarboxylic acid transporters), member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"""			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.1031-1T>C	1.37:g.110919782A>G						SLC16A4_ENST00000369781.4_Splice_Site_p.G176_splice|SLC16A4_ENST00000437429.2_Splice_Site_p.G234_splice|SLC16A4_ENST00000472422.2_Splice_Site_p.G296_splice|SLC16A4_ENST00000541986.1_Splice_Site_p.G282_splice	p.G344_splice	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	7	1281	-		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	344					A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Splice_Site	SNP	ENST00000369779.4	37	c.1030_splice	CCDS823.1																																																																																				0.398	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696	Silent	4	362	0	0	0	1	0	4	362				
KIF7	374654	broad.mit.edu	37	15	90185512	90185512	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:90185512C>A	ENST00000394412.3	-	11	2392	c.2316G>T	c.(2314-2316)aaG>aaT	p.K772N		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	772	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCTGGAGCTCCTTGCCCTCGA	0.692																																						ENST00000394412.3																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25						c.(2314-2316)aaG>aaT		kinesin family member 7							20.0	20.0	20.0					15																	90185512		2198	4298	6496	SO:0001583	missense	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90185512C>A	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.2316G>T	15.37:g.90185512C>A	ENSP00000377934:p.Lys772Asn						p.K772N	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		11	2392	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		772					Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	c.2316G>T	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	c	11.90	1.775859	0.31411	.	.	ENSG00000166813	ENST00000394412	T	0.54675	0.56	4.87	0.834	0.18880	.	0.348482	0.33753	N	0.004589	T	0.44286	0.1286	L	0.58810	1.83	0.23271	N	0.998003	B;B	0.27559	0.119;0.181	B;B	0.31547	0.132;0.102	T	0.31447	-0.9943	10	0.23302	T	0.38	.	8.5016	0.33161	0.0:0.4976:0.0:0.5024	.	258;772	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	N	772	ENSP00000377934:K772N	ENSP00000377934:K772N	K	-	3	2	KIF7	87986516	0.674000	0.27549	0.516000	0.27786	0.690000	0.40134	0.195000	0.17155	0.117000	0.18138	0.306000	0.20318	AAG		0.692	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		12	16	1	0	5.90632e-09	1	6.53466e-09	12	16				
TCTN2	79867	broad.mit.edu	37	12	124171482	124171482	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:124171482G>A	ENST00000303372.5	+	6	792	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	TCTN2_ENST00000426174.2_Missense_Mutation_p.G221R	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	222					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CTGCTCTGCTGGGACGACGAC	0.527																																						ENST00000303372.5																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(664-666)Ggg>Agg		tectonic family member 2							306.0	261.0	276.0					12																	124171482		2203	4300	6503	SO:0001583	missense	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124171482G>A	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.664G>A	12.37:g.124171482G>A	ENSP00000304941:p.Gly222Arg					TCTN2_ENST00000426174.2_Missense_Mutation_p.G221R	p.G222R	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	6	792	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		222					A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	ENST00000303372.5	37	c.664G>A	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	G	7.965	0.747789	0.15710	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.81908	-1.55;-1.55	5.65	-6.39	0.01951	Domain of unknown function DUF1619 (1);	.	.	.	.	T	0.62441	0.2428	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.50693	-0.8798	9	0.15499	T	0.54	-30.2839	13.7519	0.62912	0.2799:0.5408:0.1793:0.0	.	221;222	A8K7Y8;Q96GX1	.;TECT2_HUMAN	R	221;222	ENSP00000395171:G221R;ENSP00000304941:G222R	ENSP00000304941:G222R	G	+	1	0	TCTN2	122737435	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.118000	0.15605	-1.227000	0.02571	-0.910000	0.02820	GGG		0.527	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		10	760	0	0	0	1	0	10	760				
RRAS2	22800	broad.mit.edu	37	11	14316410	14316410	+	Splice_Site	SNP	T	T	A	rs201547693		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:14316410T>A	ENST00000256196.4	-	3	510		c.e3-2		RRAS2_ENST00000545643.1_Splice_Site|RRAS2_ENST00000414023.2_Splice_Site|RRAS2_ENST00000537760.1_Splice_Site|RRAS2_ENST00000534746.1_Splice_Site|RRAS2_ENST00000526063.1_Splice_Site|RRAS2_ENST00000532814.1_Splice_Site|RRAS2_ENST00000529237.1_Splice_Site			P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2						osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		TATCCAAAACTAAAGAAAAAA	0.398																																						ENST00000545643.1																			0				breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12						c.e3-2		related RAS viral (r-ras) oncogene homolog 2							81.0	85.0	84.0					11																	14316410		2200	4294	6494	SO:0001630	splice_region_variant	22800					endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr11:14316410T>A	M31468	CCDS7814.1, CCDS44544.1, CCDS53603.1	11p15.2	2014-05-09			ENSG00000133818	ENSG00000133818			17271	protein-coding gene	gene with protein product		600098				2108320, 8052619	Standard	NM_012250		Approved	TC21	uc001mlf.4	P62070	OTTHUMG00000165756	ENST00000256196.4:c.197-2A>T	11.37:g.14316410T>A						RRAS2_ENST00000534746.1_Splice_Site|RRAS2_ENST00000526063.1_Splice_Site|RRAS2_ENST00000256196.4_Splice_Site|RRAS2_ENST00000529237.1_Splice_Site|RRAS2_ENST00000537760.1_Splice_Site|RRAS2_ENST00000532814.1_Splice_Site|RRAS2_ENST00000414023.2_Splice_Site		NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN		Epithelial(150;0.203)	3	528	-								B2R9Z3|B7Z5Z2|B7Z6C4|B7Z7H6|P17082	Splice_Site	SNP	ENST00000256196.4	37		CCDS7814.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814905	0.70912	.	.	ENSG00000133818	ENST00000537760;ENST00000545643;ENST00000256196;ENST00000531807	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7521	0.69533	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RRAS2	14272986	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.503000	0.81632	2.031000	0.59945	0.482000	0.46254	.		0.398	RRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386035.1	NM_012250	Intron	12	141	0	0	0	1	0	12	141				
MYH2	4620	broad.mit.edu	37	17	10442881	10442881	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:10442881T>A	ENST00000245503.5	-	13	1532		c.e13-2		RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Splice_Site|MYH2_ENST00000532183.2_Splice_Site|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGTCAGCAACTAAAAAGAAGA	0.413																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.e13-2		myosin, heavy chain 2, skeletal muscle, adult							72.0	74.0	73.0					17																	10442881		2203	4300	6503	SO:0001630	splice_region_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10442881T>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1148-2A>T	17.37:g.10442881T>A						MYH2_ENST00000532183.1_Splice_Site|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Splice_Site		NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			13	1532	-								A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Splice_Site	SNP	ENST00000245503.5	37		CCDS11156.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.876559	0.72180	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2182	0.65807	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH2	10383606	1.000000	0.71417	0.939000	0.37840	0.838000	0.47535	7.868000	0.87116	2.143000	0.66587	0.477000	0.44152	.		0.413	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	Intron	7	148	0	0	0	1	0	7	148				
DDX42	11325	broad.mit.edu	37	17	61897195	61897195	+	IGR	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:61897195A>T	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Silent_p.R837R	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TTTGTTCCTTACGTTGCTGTG	0.537																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(2509-2511)cgT>cgA		FtsJ homolog 3 (E. coli)							301.0	257.0	272.0					17																	61897195		2203	4300	6503	SO:0001628	intergenic_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61897195A>T	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61897195A>T							p.R837R	NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN			21	3156	-			837					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Silent	SNP	ENST00000578681.1	37	c.2511T>A	CCDS32704.1																																																																																				0.537	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		32	1120	0	0	0	1	0	32	1120				
ZNF106	64397	broad.mit.edu	37	15	42742008	42742008	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:42742008A>T	ENST00000263805.4	-	2	2719	c.2393T>A	c.(2392-2394)gTa>gAa	p.V798E	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	798					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TTTCTTGGTTACTTGCTGAAT	0.458																																						ENST00000263805.4																			0											c.(2392-2394)gTa>gAa		zinc finger protein 106							198.0	191.0	194.0					15																	42742008		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42742008A>T	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.2393T>A	15.37:g.42742008A>T	ENSP00000263805:p.Val798Glu					ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	p.V798E	NM_022473.1	NP_071918.1					2	2719	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.2393T>A	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.254848	0.80135	.	.	ENSG00000103994	ENST00000263805	T	0.57107	0.42	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	T	0.70500	0.3231	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.973	T	0.73408	-0.3992	10	0.87932	D	0	-17.0572	16.1811	0.81903	1.0:0.0:0.0:0.0	.	581;798	B4DGC7;Q9H2Y7	.;ZF106_HUMAN	E	798	ENSP00000263805:V798E	ENSP00000263805:V798E	V	-	2	0	ZFP106	40529300	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.159000	0.77483	2.218000	0.71995	0.528000	0.53228	GTA		0.458	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		10	335	0	0	0	1	0	10	335				
DCDC1	341019	broad.mit.edu	37	11	30974117	30974117	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:30974117T>A	ENST00000597505.1	-	19	2591		c.e19-2		DCDC1_ENST00000437348.1_Intron|DCDC1_ENST00000406071.2_Splice_Site|DCDC1_ENST00000339794.5_Splice_Site			P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATGGCCCACCTAAAACAAAAG	0.333																																						ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.e19-2		doublecortin domain containing 1							99.0	83.0	88.0					11																	30974117		1812	4070	5882	SO:0001630	splice_region_variant	341019				intracellular signal transduction			g.chr11:30974117T>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.2592-2A>T	11.37:g.30974117T>A						DCDC1_ENST00000339794.5_Splice_Site|DCDC1_ENST00000437348.1_Intron|DCDC1_ENST00000406071.2_Splice_Site				P59894	DCDC1_HUMAN			19	2591	-	Lung SC(675;0.225)							A6PVL6|B7WNX6|Q6ZU04	Splice_Site	SNP	ENST00000597505.1	37																																																																																						0.333	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807	Intron	3	30	0	0	0	1	0	3	30				
ANK1	286	broad.mit.edu	37	8	41559142	41559142	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:41559142T>A	ENST00000347528.4	-	22	2472		c.e22-2		ANK1_ENST00000396942.1_Splice_Site|ANK1_ENST00000396945.1_Splice_Site|ANK1_ENST00000289734.7_Splice_Site|ANK1_ENST00000379758.2_Splice_Site|ANK1_ENST00000265709.8_Splice_Site|ANK1_ENST00000352337.4_Splice_Site	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic						axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACTGACTAACTAAAACGAGAA	0.468											OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.e22-2		ankyrin 1, erythrocytic							100.0	94.0	96.0					8																	41559142		2203	4300	6503	SO:0001630	splice_region_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41559142T>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2389-2A>T	8.37:g.41559142T>A			OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	902	ANK1_ENST00000396945.1_Splice_Site|ANK1_ENST00000347528.4_Splice_Site|ANK1_ENST00000379758.2_Splice_Site|ANK1_ENST00000265709.8_Splice_Site|ANK1_ENST00000352337.4_Splice_Site|ANK1_ENST00000289734.7_Splice_Site				P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		22	2472	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)						A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Splice_Site	SNP	ENST00000347528.4	37		CCDS6119.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.342848	0.82022	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000520299;ENST00000265709;ENST00000358820	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2977	0.82784	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANK1	41678299	1.000000	0.71417	0.990000	0.47175	0.773000	0.43773	7.879000	0.87236	2.255000	0.74692	0.533000	0.62120	.		0.468	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475	Intron	6	84	0	0	0	1	0	6	84				
WDR93	56964	broad.mit.edu	37	15	90281337	90281337	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:90281337A>T	ENST00000268130.7	+	16	1932	c.1831A>T	c.(1831-1833)Aat>Tat	p.N611Y	WDR93_ENST00000444934.2_Missense_Mutation_p.N328Y|WDR93_ENST00000560294.1_Missense_Mutation_p.N583Y	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	611					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TTTCTATTTTAATTTTGAGGC	0.443																																						ENST00000268130.7																			0				NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33						c.(1831-1833)Aat>Tat		WD repeat domain 93							240.0	248.0	245.0					15																	90281337		2200	4299	6499	SO:0001583	missense	56964				electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH	g.chr15:90281337A>T		CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"""WD repeat domain containing"""	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.1831A>T	15.37:g.90281337A>T	ENSP00000268130:p.Asn611Tyr					WDR93_ENST00000560294.1_Missense_Mutation_p.N583Y|WDR93_ENST00000444934.2_Missense_Mutation_p.N328Y	p.N611Y	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		16	1932	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		611					Q8N7Y8|Q9NP89	Missense_Mutation	SNP	ENST00000268130.7	37	c.1831A>T	CCDS32326.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.183119	0.57800	.	.	ENSG00000140527	ENST00000268130;ENST00000444934	T;T	0.47869	1.83;0.83	5.0	1.02	0.19986	.	0.229124	0.30060	N	0.010510	T	0.54838	0.1883	M	0.61703	1.905	0.26237	N	0.978936	D;D	0.63880	0.982;0.993	P;P	0.62740	0.868;0.906	T	0.39482	-0.9612	10	0.54805	T	0.06	-13.9356	5.2329	0.15432	0.5534:0.3506:0.096:0.0	.	583;611	Q6P2C0-2;Q6P2C0	.;WDR93_HUMAN	Y	611;328	ENSP00000268130:N611Y;ENSP00000403871:N328Y	ENSP00000268130:N611Y	N	+	1	0	WDR93	88082341	0.007000	0.16637	0.938000	0.37757	0.950000	0.60333	-0.062000	0.11674	0.738000	0.32606	0.529000	0.55759	AAT		0.443	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212		8	635	0	0	0	1	0	8	635				
MAGI2	9863	broad.mit.edu	37	7	77973126	77973126	+	Silent	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:77973126C>A	ENST00000354212.4	-	9	1630	c.1377G>T	c.(1375-1377)ggG>ggT	p.G459G	MAGI2_ENST00000419488.1_Silent_p.G459G|MAGI2_ENST00000522391.1_Silent_p.G459G|MAGI2_ENST00000536571.1_Silent_p.G291G|MAGI2_ENST00000535697.1_Silent_p.G296G	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	459	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTGCTGCAGGCCCATCCGGAA	0.433																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(1375-1377)ggG>ggT		membrane associated guanylate kinase, WW and PDZ domain containing 2							106.0	98.0	101.0					7																	77973126		2203	4300	6503	SO:0001819	synonymous_variant	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77973126C>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1377G>T	7.37:g.77973126C>A						MAGI2_ENST00000522391.1_Silent_p.G459G|MAGI2_ENST00000536571.1_Silent_p.G291G|MAGI2_ENST00000535697.1_Silent_p.G296G|MAGI2_ENST00000419488.1_Silent_p.G459G	p.G459G	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			9	1630	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	459			PDZ 2.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	c.1377G>T	CCDS5594.1																																																																																				0.433	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		6	122	1	0	1	1	1	6	122				
ABHD4	63874	broad.mit.edu	37	14	23072464	23072464	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:23072464C>T	ENST00000428304.2	+	3	352	c.282C>T	c.(280-282)cgC>cgT	p.R94R	ABHD4_ENST00000544562.1_3'UTR	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	94					lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		TGAGTGCCCGCCGCACACTGC	0.612																																						ENST00000428304.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14						c.(280-282)cgC>cgT		abhydrolase domain containing 4							41.0	39.0	39.0					14																	23072464		2203	4300	6503	SO:0001819	synonymous_variant	63874				lipid catabolic process		hydrolase activity	g.chr14:23072464C>T	AK022878	CCDS9572.1	14q11.1	2006-10-06			ENSG00000100439	ENSG00000100439		"""Abhydrolase domain containing"""	20154	protein-coding gene	gene with protein product							Standard	NM_022060		Approved	FLJ12816	uc001wgm.3	Q8TB40	OTTHUMG00000028686	ENST00000428304.2:c.282C>T	14.37:g.23072464C>T						ABHD4_ENST00000544562.1_3'UTR	p.R94R	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN		GBM - Glioblastoma multiforme(265;0.0153)	3	352	+	all_cancers(95;5.49e-05)		94					B4DDH7|Q9H9E0	Silent	SNP	ENST00000428304.2	37	c.282C>T	CCDS9572.1																																																																																				0.612	ABHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071623.3			3	126	0	0	0	1	0	3	126				
GPR64	10149	broad.mit.edu	37	X	19017283	19017283	+	Silent	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:19017283A>T	ENST00000379869.3	-	26	2608	c.2445T>A	c.(2443-2445)atT>atA	p.I815I	GPR64_ENST00000379873.2_Silent_p.I815I|GPR64_ENST00000340581.3_Silent_p.I696I|GPR64_ENST00000360279.4_Silent_p.I793I|GPR64_ENST00000356606.4_Silent_p.I801I|GPR64_ENST00000379878.3_Silent_p.I799I|GPR64_ENST00000354791.3_Silent_p.I799I|GPR64_ENST00000379876.1_Silent_p.I791I|GPR64_ENST00000357544.3_Silent_p.I785I|GPR64_ENST00000357991.3_Silent_p.I812I	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	815					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TCTTCTTTTTAATTCGACAGA	0.433																																						ENST00000379878.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(2395-2397)atT>atA		G protein-coupled receptor 64							138.0	135.0	136.0					X																	19017283		2203	4300	6503	SO:0001819	synonymous_variant	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19017283A>T	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2445T>A	X.37:g.19017283A>T						GPR64_ENST00000379873.2_Silent_p.I815I|GPR64_ENST00000379876.1_Silent_p.I791I|GPR64_ENST00000340581.3_Silent_p.I696I|GPR64_ENST00000360279.4_Silent_p.I793I|GPR64_ENST00000357544.3_Silent_p.I785I|GPR64_ENST00000357991.3_Silent_p.I812I|GPR64_ENST00000356606.4_Silent_p.I801I|GPR64_ENST00000379869.3_Silent_p.I815I|GPR64_ENST00000354791.3_Silent_p.I799I	p.I799I	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN			25	2638	-	Hepatocellular(33;0.183)		815					B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Silent	SNP	ENST00000379869.3	37	c.2397T>A	CCDS43923.1																																																																																				0.433	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			4	122	0	0	0	1	0	4	122				
OTULIN	90268	broad.mit.edu	37	5	14687628	14687628	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:14687628A>T	ENST00000284274.4	+	5	546		c.e5-1			NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN							canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					TCGATGTTGTAGTTACCAGAA	0.348																																						ENST00000284274.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14						c.e5-1		family with sequence similarity 105, member B							114.0	116.0	115.0					5																	14687628		1837	4102	5939	SO:0001630	splice_region_variant	90268							g.chr5:14687628A>T																												ENST00000284274.4:c.469-1A>T	5.37:g.14687628A>T								NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN			5	546	+	Lung NSC(4;0.00696)							D3DTD3|Q8NAS0|Q96IA3	Splice_Site	SNP	ENST00000284274.4	37		CCDS43302.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.065430	0.76187	.	.	ENSG00000154124	ENST00000284274	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3294	0.66545	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM105B	14740628	1.000000	0.71417	0.959000	0.39883	0.989000	0.77384	6.015000	0.70791	2.317000	0.78254	0.460000	0.39030	.		0.348	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366012.1		Intron	5	107	0	0	0	1	0	5	107				
LARS2	23395	broad.mit.edu	37	3	45537772	45537772	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:45537772A>G	ENST00000415258.1	+	13	1670	c.1529A>G	c.(1528-1530)aAg>aGg	p.K510R	LARS2_ENST00000265537.3_Missense_Mutation_p.K510R|LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000414984.1_Missense_Mutation_p.K467R			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	510					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CTTAGGTGCAAGGGAGCAGCC	0.363																																						ENST00000415258.1																			0				endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1528-1530)aAg>aGg		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)						159.0	154.0	156.0					3																	45537772		2203	4300	6503	SO:0001583	missense	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45537772A>G	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.1529A>G	3.37:g.45537772A>G	ENSP00000408576:p.Lys510Arg					LARS2_ENST00000265537.3_Missense_Mutation_p.K510R|LARS2_ENST00000414984.1_Missense_Mutation_p.K467R|LARS2-AS1_ENST00000442534.2_RNA	p.K510R			Q15031	SYLM_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	13	1670	+			510						Missense_Mutation	SNP	ENST00000415258.1	37	c.1529A>G	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.178018	0.78564	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	T;T;T	0.76448	-1.02;-1.02;-1.02	5.49	5.49	0.81192	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.157299	0.56097	D	0.000036	T	0.80037	0.4550	M	0.72576	2.205	0.41153	D	0.98604	P;B	0.37061	0.58;0.437	B;B	0.43445	0.42;0.254	T	0.82440	-0.0456	10	0.87932	D	0	-18.749	11.5725	0.50843	0.8509:0.1491:0.0:0.0	.	467;510	E9PHM2;Q15031	.;SYLM_HUMAN	R	510;510;467	ENSP00000265537:K510R;ENSP00000408576:K510R;ENSP00000412893:K467R	ENSP00000265537:K510R	K	+	2	0	LARS2	45512776	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.256000	0.51492	2.085000	0.62840	0.528000	0.53228	AAG		0.363	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		72	97	0	0	0	1	0	72	97				
ERICH6	131831	broad.mit.edu	37	3	150404112	150404112	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:150404112G>A	ENST00000295910.6	-	4	635	c.583C>T	c.(583-585)Cct>Tct	p.P195S	FAM194A_ENST00000491361.1_Missense_Mutation_p.P49S	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGACATTCAGGTTCAGCTTTC	0.388																																						ENST00000295910.6																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(583-585)Cct>Tct		family with sequence similarity 194, member A							143.0	140.0	141.0					3																	150404112		2203	4300	6503	SO:0001583	missense	131831							g.chr3:150404112G>A																												ENST00000295910.6:c.583C>T	3.37:g.150404112G>A	ENSP00000295910:p.Pro195Ser					FAM194A_ENST00000491361.1_Missense_Mutation_p.P49S	p.P195S	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN			4	635	-			195						Missense_Mutation	SNP	ENST00000295910.6	37	c.583C>T	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	G	7.131	0.579930	0.13686	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.14144	2.71;2.53	3.41	0.518	0.17030	.	0.828030	0.10150	N	0.709670	T	0.08758	0.0217	L	0.40543	1.245	0.09310	N	1	B	0.22909	0.077	B	0.23275	0.045	T	0.43893	-0.9363	10	0.09084	T	0.74	-0.5384	3.7466	0.08551	0.2368:0.204:0.5591:0.0	.	195	Q7L0X2	F194A_HUMAN	S	195;49;153	ENSP00000295910:P195S;ENSP00000419366:P49S	ENSP00000295910:P195S	P	-	1	0	FAM194A	151886802	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.024000	0.12435	0.090000	0.17273	0.491000	0.48974	CCT		0.388	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			25	121	0	0	0	1	0	25	121				
C8A	731	broad.mit.edu	37	1	57351601	57351601	+	Splice_Site	SNP	A	A	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:57351601A>C	ENST00000361249.3	+	7	953	c.857A>C	c.(856-858)aAa>aCa	p.K286T		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	286	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGCTGGCAGAAATTCATTTTC	0.393																																						ENST00000361249.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.e7-1		complement component 8, alpha polypeptide							54.0	54.0	54.0					1																	57351601		2203	4300	6503	SO:0001630	splice_region_variant	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57351601A>C	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.856-1A>C	1.37:g.57351601A>C							p.K286_splice	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			7	953	+			286			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Splice_Site	SNP	ENST00000361249.3	37	c.855_splice	CCDS606.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.403810	0.25291	.	.	ENSG00000157131	ENST00000361249	D	0.85411	-1.98	5.95	2.26	0.28386	Membrane attack complex component/perforin (MACPF) domain (2);	0.487586	0.26887	N	0.021993	D	0.83769	0.5326	M	0.77103	2.36	0.22050	N	0.999399	P	0.39424	0.673	B	0.39706	0.307	T	0.74028	-0.3796	10	0.39692	T	0.17	-9.6949	10.4056	0.44254	0.8179:0.0:0.1821:0.0	.	286	P07357	CO8A_HUMAN	T	286	ENSP00000354458:K286T	ENSP00000354458:K286T	K	+	2	0	C8A	57124189	0.741000	0.28217	0.992000	0.48379	0.095000	0.18619	1.988000	0.40697	0.483000	0.27608	0.460000	0.39030	AAA		0.393	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562	Missense_Mutation	12	69	0	0	0	1	0	12	69				
MCM2	4171	broad.mit.edu	37	3	127338092	127338092	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:127338092A>T	ENST00000265056.7	+	13	2480	c.2236A>T	c.(2236-2238)Atg>Ttg	p.M746L	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	746					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						GGTGGCCAAGATGTACAGTGA	0.567																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.(2236-2238)Atg>Ttg		minichromosome maintenance complex component 2							117.0	94.0	102.0					3																	127338092		2203	4300	6503	SO:0001583	missense	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127338092A>T	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.2236A>T	3.37:g.127338092A>T	ENSP00000265056:p.Met746Leu					MCM2_ENST00000468414.1_3'UTR	p.M746L	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN			13	2480	+			746					Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	c.2236A>T	CCDS3043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.773|9.773	1.173298|1.173298	0.21704|0.21704	.|.	.|.	ENSG00000073111|ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142|ENST00000491422	T|.	0.09255|.	3.0|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.037864|.	0.85682|.	D|.	0.000000|.	T|T	0.35189|0.35189	0.0923|0.0923	N|N	0.03891|0.03891	-0.335|-0.335	0.80722|0.80722	D|D	1|1	B;B;B|.	0.14438|.	0.01;0.0;0.0|.	B;B;B|.	0.13407|.	0.009;0.006;0.006|.	T|T	0.33523|0.33523	-0.9865|-0.9865	10|5	0.02654|.	T|.	1|.	-50.0606|-50.0606	15.7928|15.7928	0.78380|0.78380	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	796;616;746|.	F5H1E9;B4DSV5;P49736|.	.;.;MCM2_HUMAN|.	L|S	746;650;796|677	ENSP00000265056:M746L|.	ENSP00000265056:M746L|.	M|R	+|+	1|3	0|2	MCM2|MCM2	128820782|128820782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.853000|8.853000	0.92222|0.92222	2.132000|2.132000	0.65825|0.65825	0.482000|0.482000	0.46254|0.46254	ATG|AGA		0.567	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			69	108	0	0	0	1	0	69	108				
HMCN1	83872	broad.mit.edu	37	1	186086589	186086589	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:186086589A>T	ENST00000271588.4	+	77	11912		c.e77-1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGTTGTTTTAGTTCCACCTT	0.403																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.e77-1		hemicentin 1							70.0	69.0	70.0					1																	186086589		2203	4300	6503	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186086589A>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11684-1A>T	1.37:g.186086589A>T						HMCN1_ENST00000367492.2_Splice_Site		NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			77	11912	+								A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37		CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.669800	0.88348	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8909	0.79296	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HMCN1	184353212	1.000000	0.71417	0.969000	0.41365	0.967000	0.64934	9.339000	0.96797	2.146000	0.66826	0.533000	0.62120	.		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Intron	4	69	0	0	0	1	0	4	69				
EPG5	57724	broad.mit.edu	37	18	43462454	43462454	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr18:43462454T>A	ENST00000282041.5	-	31	5339		c.e31-2		EPG5_ENST00000585906.1_Splice_Site	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)						autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AAGATCGAACTAAAAAGAAAA	0.393																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.e31-2		ectopic P-granules autophagy protein 5 homolog (C. elegans)							36.0	34.0	35.0					18																	43462454		1816	4078	5894	SO:0001630	splice_region_variant	57724				autophagy			g.chr18:43462454T>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.5305-2A>T	18.37:g.43462454T>A						EPG5_ENST00000585906.1_Splice_Site		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			31	5339	-								A2BDF3|Q9H8C8	Splice_Site	SNP	ENST00000282041.5	37		CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	25.5	4.645964	0.87958	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5079	0.75757	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPG5	41716452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.841000	0.86834	2.059000	0.61396	0.533000	0.62120	.		0.393	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964	Intron	3	33	0	0	0	1	0	3	33				
BIRC6	57448	broad.mit.edu	37	2	32832520	32832520	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:32832520A>T	ENST00000421745.2	+	72	14204		c.e72-1			NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTTATTCTTTAGGTGTTGGTG	0.408																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.e72-1		baculoviral IAP repeat containing 6							165.0	165.0	165.0					2																	32832520		2203	4300	6503	SO:0001630	splice_region_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32832520A>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.14071-1A>T	2.37:g.32832520A>T								NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			72	14204	+	Acute lymphoblastic leukemia(172;0.155)							Q9ULD1	Splice_Site	SNP	ENST00000421745.2	37		CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	16.19	3.052658	0.55218	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2661	0.73663	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BIRC6	32686024	1.000000	0.71417	0.933000	0.37362	0.419000	0.31324	9.335000	0.96500	1.994000	0.58287	0.477000	0.44152	.		0.408	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	Intron	8	374	0	0	0	1	0	8	374				
TSEN2	80746	broad.mit.edu	37	3	12546651	12546651	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:12546651A>T	ENST00000284995.6	+	6	1218		c.e6-1		TSEN2_ENST00000415684.1_Intron|TSEN2_ENST00000444864.1_Intron|TSEN2_ENST00000314571.7_Intron|TSEN2_ENST00000454502.2_Splice_Site|TSEN2_ENST00000402228.3_Splice_Site|TSEN2_ENST00000383797.5_Splice_Site	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit						mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						CTTTCTCTTTAGTTGGTGCAA	0.299																																						ENST00000284995.6																			0				central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						c.e6-1		TSEN2 tRNA splicing endonuclease subunit							80.0	81.0	81.0					3																	12546651		2203	4300	6503	SO:0001630	splice_region_variant	80746				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr3:12546651A>T	BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"""tRNA splicing endonuclease subunits"""	28422	protein-coding gene	gene with protein product		608753	"""tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)"", ""tRNA splicing endonuclease 2 homolog (S. cerevisiae)"""			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.832-1A>T	3.37:g.12546651A>T						TSEN2_ENST00000454502.2_Splice_Site|TSEN2_ENST00000444864.1_Intron|TSEN2_ENST00000415684.1_Intron|TSEN2_ENST00000383797.5_Splice_Site|TSEN2_ENST00000314571.7_Intron|TSEN2_ENST00000402228.3_Splice_Site		NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN			6	1218	+								B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Splice_Site	SNP	ENST00000284995.6	37		CCDS2611.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.587881	0.66105	.	.	ENSG00000154743	ENST00000446004;ENST00000454502;ENST00000383797;ENST00000402228;ENST00000284995;ENST00000537959	.	.	.	5.23	4.07	0.47477	.	.	.	.	.	.	.	.	.	.	.	0.34266	D	0.680472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.5866	0.27995	0.9035:0.0:0.0965:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TSEN2	12521651	0.993000	0.37304	0.025000	0.17156	0.924000	0.55760	3.752000	0.55172	0.845000	0.35118	0.459000	0.35465	.		0.299	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	NM_025265	Intron	4	26	0	0	0	1	0	4	26				
FAM86DP	692099	broad.mit.edu	37	3	75478338	75478338	+	RNA	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:75478338T>C	ENST00000459803.1	-	0	327					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		TCAGGGTCTCTGCCAGTGCCT	0.557																																						ENST00000459803.1																			0																																																			692099							g.chr3:75478338T>C	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75478338T>C								NR_024241.1						0	327	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.557	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		4	67	0	0	0	1	0	4	67				
ZKSCAN2	342357	broad.mit.edu	37	16	25255401	25255401	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:25255401G>A	ENST00000328086.7	-	6	2489	c.1686C>T	c.(1684-1686)cgC>cgT	p.R562R		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	562					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TTTTCACCTTGCGGTAACTCT	0.542																																						ENST00000328086.7																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(1684-1686)cgC>cgT		zinc finger with KRAB and SCAN domains 2							93.0	91.0	91.0					16																	25255401		2197	4300	6497	SO:0001819	synonymous_variant	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25255401G>A	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1686C>T	16.37:g.25255401G>A							p.R562R	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	6	2489	-			562					A1L3B4|Q6ZN77	Silent	SNP	ENST00000328086.7	37	c.1686C>T	CCDS32410.1																																																																																				0.542	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		4	199	0	0	0	1	0	4	199				
SLC4A7	9497	broad.mit.edu	37	3	27427422	27427422	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:27427422C>T	ENST00000295736.5	-	23	3496	c.3426G>A	c.(3424-3426)aaG>aaA	p.K1142K	SLC4A7_ENST00000435667.2_Silent_p.K1027K|SLC4A7_ENST00000388777.4_Silent_p.K692K|SLC4A7_ENST00000428386.1_Silent_p.K1018K|SLC4A7_ENST00000437179.1_Silent_p.K1023K|SLC4A7_ENST00000446700.1_Silent_p.K1134K|SLC4A7_ENST00000440156.1_Silent_p.K1138K|SLC4A7_ENST00000454389.1_Silent_p.K1151K|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000445684.1_Silent_p.K1138K|SLC4A7_ENST00000455077.1_Silent_p.K1023K	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1142					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	ctttctttttcttactttctG	0.323																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(3424-3426)aaG>aaA		solute carrier family 4, sodium bicarbonate cotransporter, member 7							80.0	88.0	85.0					3																	27427422		2203	4300	6503	SO:0001819	synonymous_variant	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27427422C>T	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.3426G>A	3.37:g.27427422C>T						SLC4A7_ENST00000440156.1_Silent_p.K1138K|SLC4A7_ENST00000388777.4_Silent_p.K692K|SLC4A7_ENST00000437179.1_Silent_p.K1023K|SLC4A7_ENST00000445684.1_Silent_p.K1138K|SLC4A7_ENST00000446700.1_Silent_p.K1134K|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000428386.1_Silent_p.K1018K|SLC4A7_ENST00000454389.1_Silent_p.K1151K|SLC4A7_ENST00000435667.2_Silent_p.K1027K|SLC4A7_ENST00000455077.1_Silent_p.K1023K	p.K1142K	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN			23	3496	-			1142					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Silent	SNP	ENST00000295736.5	37	c.3426G>A	CCDS33721.1																																																																																				0.323	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		5	84	0	0	0	1	0	5	84				
UTP11L	51118	broad.mit.edu	37	1	38484984	38484984	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:38484984T>A	ENST00000373014.4	+	6	557	c.496T>A	c.(496-498)Ttt>Att	p.F166I	UTP11L_ENST00000537711.1_Intron|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)	166					nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleolus (GO:0005730)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGACAGAGTCTTTAATAGGCC	0.423																																						ENST00000373014.4																			0				NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(496-498)Ttt>Att		UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)							107.0	112.0	110.0					1																	38484984		2203	4300	6503	SO:0001583	missense	51118				induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding	g.chr1:38484984T>A	AF151852	CCDS429.1	1p34.3	2014-03-06	2014-03-06		ENSG00000183520	ENSG00000183520			24329	protein-coding gene	gene with protein product		609440				11860508, 10810093	Standard	NM_016037		Approved	CGI-94	uc001ccn.4	Q9Y3A2	OTTHUMG00000004435	ENST00000373014.4:c.496T>A	1.37:g.38484984T>A	ENSP00000362105:p.Phe166Ile					UTP11L_ENST00000537711.1_Intron|UTP11L_ENST00000488453.1_3'UTR	p.F166I	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN			6	557	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	166					A8K785|B4DJC6|D3DPT7|Q5VT93|Q9BS98|Q9NS31	Missense_Mutation	SNP	ENST00000373014.4	37	c.496T>A	CCDS429.1	.	.	.	.	.	.	.	.	.	.	T	18.31	3.596613	0.66332	.	.	ENSG00000183520	ENST00000373014	.	.	.	5.8	5.8	0.92144	.	0.155260	0.64402	D	0.000013	T	0.57814	0.2079	L	0.49455	1.56	0.80722	D	1	B	0.27316	0.175	B	0.28465	0.09	T	0.53767	-0.8392	9	0.22706	T	0.39	-19.0294	16.1435	0.81544	0.0:0.0:0.0:1.0	.	166	Q9Y3A2	UTP11_HUMAN	I	166	.	ENSP00000362105:F166I	F	+	1	0	UTP11L	38257571	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.887000	0.75616	2.212000	0.71576	0.528000	0.53228	TTT		0.423	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012962.1	NM_016037		6	83	0	0	0	1	0	6	83				
CACNA1S	779	broad.mit.edu	37	1	201054102	201054102	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:201054102C>T	ENST00000362061.3	-	9	1434	c.1208G>A	c.(1207-1209)gGc>gAc	p.G403D	CACNA1S_ENST00000367338.3_Missense_Mutation_p.G403D	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	403					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTTGTTCAAGCCTGCAATTTC	0.532																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1207-1209)gGc>gAc		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						81.0	90.0	87.0					1																	201054102		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201054102C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1208G>A	1.37:g.201054102C>T	ENSP00000355192:p.Gly403Asp					CACNA1S_ENST00000367338.3_Missense_Mutation_p.G403D	p.G403D	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			9	1434	-			403					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.1208G>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931057	0.52866	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96136	-3.92;-3.83	5.17	5.17	0.71159	.	1.015390	0.07898	N	0.972252	D	0.94788	0.8317	L	0.58925	1.835	0.43830	D	0.996406	B	0.21520	0.057	B	0.22152	0.038	D	0.86259	0.1654	10	0.44086	T	0.13	.	16.8283	0.85937	0.0:1.0:0.0:0.0	.	403	Q13698	CAC1S_HUMAN	D	403	ENSP00000355192:G403D;ENSP00000356307:G403D	ENSP00000355192:G403D	G	-	2	0	CACNA1S	199320725	1.000000	0.71417	0.996000	0.52242	0.928000	0.56348	5.257000	0.65473	2.398000	0.81561	0.573000	0.79308	GGC		0.532	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		4	166	0	0	0	1	0	4	166				
MUC16	94025	broad.mit.edu	37	19	9015723	9015723	+	Silent	SNP	C	C	T	rs371329008	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:9015723C>T	ENST00000397910.4	-	29	38303	c.38100G>A	c.(38098-38100)ccG>ccA	p.P12700P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12702	SEA 5. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAGGGTGAACGGCACCAGGA	0.468													-|||	7	0.00139776	0.0053	0.0	5008	,	,		14756	0.0		0.0	False		,,,				2504	0.0					ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(38098-38100)ccG>ccA		mucin 16, cell surface associated		C		13,3935		0,13,1961	193.0	169.0	177.0		38100	-5.8	0.0	19	dbSNP_134	177	0,8264		0,0,4132	no	coding-synonymous	MUC16	NM_024690.2		0,13,6093	TT,TC,CC		0.0,0.3293,0.1065		12700/14508	9015723	13,12199	1974	4132	6106	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9015723C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38100G>A	19.37:g.9015723C>T							p.P12700P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			29	38303	-			12702			SEA 5.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.38100G>A	CCDS54212.1																																																																																				0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	1613	0	0	0	1	0	13	1613				
USP30	84749	broad.mit.edu	37	12	109509468	109509468	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:109509468G>A	ENST00000257548.5	+	5	625	c.532G>A	c.(532-534)Gac>Aac	p.D178N	USP30_ENST00000392784.2_Missense_Mutation_p.D147N	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	178	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						AGATGAGCGAGACCGCCAGCC	0.443																																						ENST00000257548.5																			0				endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.(532-534)Gac>Aac		ubiquitin specific peptidase 30							119.0	99.0	106.0					12																	109509468		2203	4300	6503	SO:0001583	missense	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109509468G>A	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.532G>A	12.37:g.109509468G>A	ENSP00000257548:p.Asp178Asn					USP30_ENST00000392784.2_Missense_Mutation_p.D147N	p.D178N	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN			5	625	+			178					Q8WTU7|Q96JX4|Q9BSS3	Missense_Mutation	SNP	ENST00000257548.5	37	c.532G>A	CCDS9123.2	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741490	0.89573	.	.	ENSG00000135093	ENST00000392784;ENST00000257548;ENST00000536723;ENST00000536393	T;T;T;T	0.72505	-0.66;-0.66;1.66;4.26	5.2	5.2	0.72013	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.185065	0.56097	D	0.000026	T	0.65080	0.2657	N	0.13043	0.29	0.58432	D	0.999996	D	0.55172	0.97	P	0.57324	0.818	T	0.60586	-0.7234	10	0.02654	T	1	-33.3572	17.7227	0.88356	0.0:0.0:1.0:0.0	.	178	Q70CQ3	UBP30_HUMAN	N	147;178;147;117	ENSP00000376535:D147N;ENSP00000257548:D178N;ENSP00000443678:D147N;ENSP00000438829:D117N	ENSP00000257548:D178N	D	+	1	0	USP30	107993851	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.093000	0.71422	2.421000	0.82119	0.462000	0.41574	GAC		0.443	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		12	177	0	0	0	1	0	12	177				
DPPA2	151871	broad.mit.edu	37	3	109023492	109023492	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:109023492G>A	ENST00000478945.1	-	7	930	c.684C>T	c.(682-684)ggC>ggT	p.G228G		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	228					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGAGAAGTCTGCCATGGACCA	0.502																																						ENST00000478945.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(682-684)ggC>ggT		developmental pluripotency associated 2							69.0	64.0	66.0					3																	109023492		2203	4300	6503	SO:0001819	synonymous_variant	151871					nucleus	nucleic acid binding	g.chr3:109023492G>A	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.684C>T	3.37:g.109023492G>A							p.G228G	NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN			7	930	-			228					Q8WVF0	Silent	SNP	ENST00000478945.1	37	c.684C>T	CCDS2956.1																																																																																				0.502	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		4	83	0	0	0	1	0	4	83				
FAM122C	159091	broad.mit.edu	37	X	133948799	133948799	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:133948799A>T	ENST00000370784.4	+	2	516		c.e2-1		FAM122C_ENST00000370785.3_Splice_Site|FAM122C_ENST00000414371.2_Splice_Site|FAM122C_ENST00000445123.1_Splice_Site	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C											endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TTTTCTTTTTAGTTTTAATTC	0.338																																						ENST00000445123.1																			0				endometrium(2)|kidney(1)|lung(2)	5						c.e3-1		family with sequence similarity 122C							60.0	60.0	60.0					X																	133948799		2202	4300	6502	SO:0001630	splice_region_variant	159091							g.chrX:133948799A>T	BC017868	CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1	Xq26.3	2008-02-05	2006-07-11		ENSG00000156500	ENSG00000156500			25202	protein-coding gene	gene with protein product						12477932	Standard	NM_138819		Approved	RP3-473B4.1	uc004exz.2	Q6P4D5	OTTHUMG00000022716	ENST00000370784.4:c.111-1A>T	X.37:g.133948799A>T						FAM122C_ENST00000370784.4_Splice_Site|FAM122C_ENST00000370785.3_Splice_Site|FAM122C_ENST00000414371.2_Splice_Site				Q6P4D5	F222C_HUMAN			3	274	+	Acute lymphoblastic leukemia(192;0.000127)							F5H036|Q8WVK9	Splice_Site	SNP	ENST00000370784.4	37		CCDS55501.1	.	.	.	.	.	.	.	.	.	.	a	10.31	1.313542	0.23908	.	.	ENSG00000156500	ENST00000414371;ENST00000370784;ENST00000370785	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7226	0.46048	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM122C	133776465	1.000000	0.71417	0.663000	0.29738	0.151000	0.21798	4.668000	0.61568	1.800000	0.52685	0.466000	0.42574	.		0.338	FAM122C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_138819	Intron	8	71	0	0	0	1	0	8	71				
IL23R	149233	broad.mit.edu	37	1	67666418	67666418	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:67666418A>T	ENST00000347310.5	+	5	662		c.e5-1		C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Splice_Site	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor						defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)		p.?(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TTTTGTTTTAAGTTTAGAGAC	0.373																																						ENST00000347310.5																			1	Unknown(1)	p.?(1)	urinary_tract(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						c.e5-1		interleukin 23 receptor							67.0	68.0	68.0					1																	67666418		2203	4300	6503	SO:0001630	splice_region_variant	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67666418A>T	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.492-1A>T	1.37:g.67666418A>T						IL23R_ENST00000371002.1_Splice_Site|C1orf141_ENST00000371007.2_Intron		NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN			5	662	+								C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Splice_Site	SNP	ENST00000347310.5	37		CCDS637.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.336879	0.60963	.	.	ENSG00000162594	ENST00000347310;ENST00000431791;ENST00000441823;ENST00000416525;ENST00000540911;ENST00000371002;ENST00000543799	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8155	0.57663	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL23R	67439006	0.997000	0.39634	0.966000	0.40874	0.749000	0.42624	4.736000	0.62059	2.279000	0.76181	0.533000	0.62120	.		0.373	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701	Intron	4	54	0	0	0	1	0	4	54				
FNDC3B	64778	broad.mit.edu	37	3	172115263	172115263	+	Nonstop_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:172115263T>A	ENST00000336824.4	+	26	3712	c.3613T>A	c.(3613-3615)Taa>Aaa	p.*1205K	FNDC3B_ENST00000416957.1_Nonstop_Mutation_p.*1205K|FNDC3B_ENST00000415807.2_Nonstop_Mutation_p.*1205K	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	0					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CTTAATGAAGTAAACCCAACA	0.328																																						ENST00000336824.4																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69						c.(3613-3615)Taa>Aaa		fibronectin type III domain containing 3B							94.0	85.0	88.0					3																	172115263		2203	4300	6503	SO:0001578	stop_lost	64778					endoplasmic reticulum|integral to membrane		g.chr3:172115263T>A	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.3613T>A	3.37:g.172115263T>A	ENSP00000338523:p.*1205Lysext*5					FNDC3B_ENST00000415807.2_Nonstop_Mutation_p.*1205K|FNDC3B_ENST00000416957.1_Nonstop_Mutation_p.*1205K	p.*1205K	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	26	3712	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		0					B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Nonstop_Mutation	SNP	ENST00000336824.4	37	c.3613T>A	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.847738	0.71603	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	.	.	.	5.62	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2419	0.48974	0.0:0.0715:0.0:0.9285	.	.	.	.	K	1205	.	.	X	+	1	0	FNDC3B	173597957	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.588000	0.82629	0.973000	0.38340	0.383000	0.25322	TAA		0.328	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		4	105	0	0	0	1	0	4	105				
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T	rs200228350	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627																																						ENST00000385099.1																			0																																																			28812							g.chr22:23006961C>T																													22.37:g.23006961C>T														0	64	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	4	0	0	0	1	0	3	4				
ZNF474	133923	broad.mit.edu	37	5	121488728	121488728	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:121488728T>G	ENST00000296600.4	+	2	1426	c.1043T>G	c.(1042-1044)aTt>aGt	p.I348S	CTC-441N14.2_ENST00000504829.1_RNA|CTC-441N14.1_ENST00000505209.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	348							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GATAAGGTAATTCATGCCACA	0.473																																						ENST00000296600.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21						c.(1042-1044)aTt>aGt		zinc finger protein 474							62.0	59.0	60.0					5																	121488728		2203	4300	6503	SO:0001583	missense	133923					intracellular	zinc ion binding	g.chr5:121488728T>G	AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"""Zinc fingers, C2H2-type"""	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.1043T>G	5.37:g.121488728T>G	ENSP00000296600:p.Ile348Ser					CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	p.I348S	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)	2	1426	+		all_cancers(142;0.229)|Prostate(80;0.0387)	348					A8K4M0|Q96M07	Missense_Mutation	SNP	ENST00000296600.4	37	c.1043T>G	CCDS4130.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.513252	0.00975	.	.	ENSG00000164185	ENST00000296600	T	0.50813	0.73	5.43	-1.19	0.09585	.	1.705140	0.04568	U	0.392818	T	0.28366	0.0701	N	0.24115	0.695	0.09310	N	0.999994	B	0.30793	0.295	B	0.30029	0.11	T	0.10314	-1.0635	10	0.07482	T	0.82	.	5.6419	0.17569	0.1381:0.413:0.0:0.4489	.	348	Q6S9Z5	ZN474_HUMAN	S	348	ENSP00000296600:I348S	ENSP00000296600:I348S	I	+	2	0	ZNF474	121516627	0.482000	0.25948	0.029000	0.17559	0.003000	0.03518	0.392000	0.20801	-0.449000	0.07117	-0.899000	0.02877	ATT		0.473	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250883.2	NM_207317		51	105	0	0	0	1	0	51	105				
CLSTN2	64084	broad.mit.edu	37	3	140275475	140275475	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:140275475C>T	ENST00000458420.3	+	11	1985	c.1795C>T	c.(1795-1797)Cgg>Tgg	p.R599W		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	599					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.R599W(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGCGGGTGTGCGGCGCCTCAA	0.577										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	ENST00000458420.3																			1	Substitution - Missense(1)	p.R599W(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(1795-1797)Cgg>Tgg		calsyntenin 2							87.0	78.0	81.0					3																	140275475		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140275475C>T	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1795C>T	3.37:g.140275475C>T	ENSP00000402460:p.Arg599Trp	HNSCC(16;0.037)					p.R599W	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN			11	1985	+			599					B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.1795C>T	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971896	0.74246	.	.	ENSG00000158258	ENST00000458420	T	0.36699	1.24	5.39	3.47	0.39725	.	0.000000	0.85682	D	0.000000	T	0.61400	0.2344	M	0.85630	2.765	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	T	0.66736	-0.5848	9	.	.	.	-27.9673	12.0457	0.53479	0.4075:0.5925:0.0:0.0	.	599	Q9H4D0	CSTN2_HUMAN	W	599	ENSP00000402460:R599W	.	R	+	1	2	CLSTN2	141758165	0.995000	0.38212	1.000000	0.80357	0.935000	0.57460	1.830000	0.39131	1.389000	0.46526	0.563000	0.77884	CGG		0.577	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		4	166	0	0	0	1	0	4	166				
XPO6	23214	broad.mit.edu	37	16	28164063	28164063	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:28164063C>T	ENST00000304658.5	-	8	1641	c.1141G>A	c.(1141-1143)Gtt>Att	p.V381I	XPO6_ENST00000561488.1_5'Flank|XPO6_ENST00000565698.1_Missense_Mutation_p.V367I	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	381					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CTTAGGTGAACACTCACAAAG	0.408																																						ENST00000304658.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(1141-1143)Gtt>Att		exportin 6							79.0	71.0	73.0					16																	28164063		1860	4092	5952	SO:0001583	missense	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28164063C>T	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.1141G>A	16.37:g.28164063C>T	ENSP00000302790:p.Val381Ile					XPO6_ENST00000565698.1_Missense_Mutation_p.V367I	p.V381I	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN			8	1641	-			381					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	c.1141G>A	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301640	0.40694	.	.	ENSG00000169180	ENST00000304658	T	0.46063	0.88	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.38295	0.1035	L	0.42245	1.32	0.80722	D	1	B;B	0.29188	0.076;0.236	B;B	0.24848	0.046;0.056	T	0.09400	-1.0676	10	0.37606	T	0.19	-12.4721	17.7923	0.88558	0.0:1.0:0.0:0.0	.	381;381	B7ZM10;Q96QU8	.;XPO6_HUMAN	I	381	ENSP00000302790:V381I	ENSP00000302790:V381I	V	-	1	0	XPO6	28071564	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.629000	0.83207	2.793000	0.96121	0.655000	0.94253	GTT		0.408	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		4	176	0	0	0	1	0	4	176				
NXN	64359	broad.mit.edu	37	17	725651	725651	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:725651C>T	ENST00000336868.3	-	4	750	c.659G>A	c.(658-660)cGg>cAg	p.R220Q	NXN_ENST00000575801.1_Missense_Mutation_p.R112Q|NXN_ENST00000538650.1_5'UTR|NXN_ENST00000577098.1_5'Flank|NXN_ENST00000537628.2_5'UTR	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	220	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)	p.R220Q(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		CTTGATCTTCCGGTAGGATTC	0.592																																						ENST00000336868.3																			1	Substitution - Missense(1)	p.R220Q(1)	haematopoietic_and_lymphoid_tissue(1)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13						c.(658-660)cGg>cAg		nucleoredoxin							111.0	85.0	94.0					17																	725651		2203	4300	6503	SO:0001583	missense	64359				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity	g.chr17:725651C>T		CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.659G>A	17.37:g.725651C>T	ENSP00000337443:p.Arg220Gln					NXN_ENST00000538650.1_5'UTR|NXN_ENST00000537628.2_5'UTR|NXN_ENST00000575801.1_Missense_Mutation_p.R112Q	p.R220Q	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)	4	750	-			220			Thioredoxin.		B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Missense_Mutation	SNP	ENST00000336868.3	37	c.659G>A	CCDS10998.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.795926	0.90453	.	.	ENSG00000167693	ENST00000336868;ENST00000537628	T	0.79940	-1.32	5.94	5.94	0.96194	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.160803	0.56097	D	0.000029	T	0.71913	0.3396	N	0.02391	-0.57	0.80722	D	1	P;D;D	0.71674	0.953;0.996;0.998	P;P;P	0.55999	0.508;0.638;0.789	T	0.72743	-0.4201	10	0.15499	T	0.54	-8.2916	19.3475	0.94370	0.0:1.0:0.0:0.0	.	112;107;220	B4DXQ0;Q6DKJ4-2;Q6DKJ4	.;.;NXN_HUMAN	Q	220;112	ENSP00000337443:R220Q	ENSP00000337443:R220Q	R	-	2	0	NXN	672401	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.975000	0.70475	2.816000	0.96949	0.563000	0.77884	CGG		0.592	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206669.1			6	520	0	0	0	1	0	6	520				
SELE	6401	broad.mit.edu	37	1	169701918	169701918	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:169701918G>A	ENST00000333360.7	-	3	398	c.259C>T	c.(259-261)Cag>Tag	p.Q87*	SELE_ENST00000367777.1_Nonsense_Mutation_p.Q87*|SELE_ENST00000367782.4_Nonsense_Mutation_p.Q87*|SELE_ENST00000367781.4_Nonsense_Mutation_p.Q87*|SELE_ENST00000367774.1_Nonsense_Mutation_p.Q87*|SELE_ENST00000367780.4_Nonsense_Mutation_p.Q87*|SELE_ENST00000367776.1_Nonsense_Mutation_p.Q87*|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367775.1_Nonsense_Mutation_p.Q87*|SELE_ENST00000367779.4_Nonsense_Mutation_p.Q87*	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	87	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	AGAGGTTTCTGGGTTCCTACC	0.433																																						ENST00000333360.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(259-261)Cag>Tag		selectin E							79.0	76.0	77.0					1																	169701918		2203	4300	6503	SO:0001587	stop_gained	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169701918G>A	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.259C>T	1.37:g.169701918G>A	ENSP00000331736:p.Gln87*					C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Nonsense_Mutation_p.Q87*|SELE_ENST00000367779.4_Nonsense_Mutation_p.Q87*|SELE_ENST00000367782.4_Nonsense_Mutation_p.Q87*|SELE_ENST00000367781.4_Nonsense_Mutation_p.Q87*|SELE_ENST00000367776.1_Nonsense_Mutation_p.Q87*|SELE_ENST00000367777.1_Nonsense_Mutation_p.Q87*|SELE_ENST00000367774.1_Nonsense_Mutation_p.Q87*|SELE_ENST00000367775.1_Nonsense_Mutation_p.Q87*	p.Q87*	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN			3	398	-	all_hematologic(923;0.208)		87			C-type lectin.		A2RRD6|P16111	Nonsense_Mutation	SNP	ENST00000333360.7	37	c.259C>T	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	G	32	5.178759	0.94846	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	.	.	.	5.76	1.69	0.24217	.	1.073430	0.07333	N	0.879546	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	0.1191	11.2521	0.49032	0.0:0.1127:0.3149:0.5724	.	.	.	.	X	87	.	ENSP00000331736:Q87X	Q	-	1	0	SELE	167968542	1.000000	0.71417	0.960000	0.40013	0.926000	0.56050	1.193000	0.32162	0.052000	0.16007	-0.169000	0.13324	CAG		0.433	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		3	38	0	0	0	1	0	3	38				
TNFSF10	8743	broad.mit.edu	37	3	172227005	172227005	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:172227005A>T	ENST00000241261.2	-	4	541		c.e4+1		TNFSF10_ENST00000420541.2_Intron	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGTTTCTCTTACTTGGAGAAG	0.358																																						ENST00000241261.2																			0				breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15						c.e4+1		tumor necrosis factor (ligand) superfamily, member 10							92.0	88.0	89.0					3																	172227005		2203	4300	6503	SO:0001630	splice_region_variant	8743				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding	g.chr3:172227005A>T	U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.418+1T>A	3.37:g.172227005A>T						TNFSF10_ENST00000420541.2_Intron		NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		4	541	-	Ovarian(172;0.00197)|Breast(254;0.158)							A1Y9B3	Splice_Site	SNP	ENST00000241261.2	37		CCDS3219.1	.	.	.	.	.	.	.	.	.	.	A	9.342	1.063284	0.20067	.	.	ENSG00000121858	ENST00000241261	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.136	0.48375	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TNFSF10	173709699	1.000000	0.71417	0.970000	0.41538	0.023000	0.10783	4.413000	0.59795	2.053000	0.61076	0.455000	0.32223	.		0.358	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346601.1		Intron	6	149	0	0	0	1	0	6	149				
UBR2	23304	broad.mit.edu	37	6	42541661	42541661	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:42541661G>A	ENST00000372899.1	+	2	526	c.268G>A	c.(268-270)Gag>Aag	p.E90K	UBR2_ENST00000372901.1_Missense_Mutation_p.E90K|UBR2_ENST00000372903.2_Missense_Mutation_p.E90K	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	90					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TCCAAAACTTGAGCAAGCAAA	0.388																																						ENST00000372899.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(268-270)Gag>Aag		ubiquitin protein ligase E3 component n-recognin 2							123.0	119.0	120.0					6																	42541661		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42541661G>A	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.268G>A	6.37:g.42541661G>A	ENSP00000361990:p.Glu90Lys					UBR2_ENST00000372901.1_Missense_Mutation_p.E90K|UBR2_ENST00000372903.2_Missense_Mutation_p.E90K	p.E90K	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		2	526	+	Colorectal(47;0.196)		90					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.268G>A	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	5.653	0.305140	0.10678	.	.	ENSG00000024048	ENST00000372903;ENST00000372899;ENST00000372901	T;T;T	0.71341	-0.56;0.47;0.47	5.53	4.66	0.58398	.	0.163086	0.53938	D	0.000044	T	0.28400	0.0702	N	0.19112	0.55	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.24977	-1.0145	10	0.02654	T	1	-5.8685	9.8645	0.41134	0.0725:0.1407:0.7869:0.0	.	90;90	Q8IWV8;Q8IWV8-2	UBR2_HUMAN;.	K	90	ENSP00000361994:E90K;ENSP00000361990:E90K;ENSP00000361992:E90K	ENSP00000361990:E90K	E	+	1	0	UBR2	42649639	0.996000	0.38824	1.000000	0.80357	0.974000	0.67602	2.375000	0.44283	1.318000	0.45170	0.655000	0.94253	GAG		0.388	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		324	135	0	0	0	1	0	324	135				
NWD1	284434	broad.mit.edu	37	19	16910759	16910759	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:16910759G>A	ENST00000552788.1	+	15	3522	c.3522G>A	c.(3520-3522)gtG>gtA	p.V1174V	NWD1_ENST00000549814.1_Intron|NWD1_ENST00000523826.1_Silent_p.V968V|NWD1_ENST00000339803.6_Silent_p.V1039V|NWD1_ENST00000379808.3_Silent_p.V1174V|NWD1_ENST00000524140.2_Silent_p.V1174V|CTD-2538G9.6_ENST00000601661.1_RNA			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1174							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGGCCCCCGTGAGCCTGCTGG	0.617																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3520-3522)gtG>gtA		NACHT and WD repeat domain containing 1							42.0	44.0	44.0					19																	16910759		2203	4300	6503	SO:0001819	synonymous_variant	284434						ATP binding	g.chr19:16910759G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3522G>A	19.37:g.16910759G>A						NWD1_ENST00000523826.1_Silent_p.V968V|NWD1_ENST00000339803.6_Silent_p.V1039V|NWD1_ENST00000549814.1_Intron|NWD1_ENST00000552788.1_Silent_p.V1174V|NWD1_ENST00000379808.3_Silent_p.V1174V	p.V1174V	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			17	3940	+			1174					C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37	c.3522G>A																																																																																					0.617	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		30	31	0	0	0	1	0	30	31				
CCDC6	8030	broad.mit.edu	37	10	61566751	61566751	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:61566751C>T	ENST00000263102.6	-	6	1164	c.933G>A	c.(931-933)gaG>gaA	p.E311E		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	311						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TTCTCTCCATCTCCCTCTGCA	0.488			T	RET	NSCLC																																	ENST00000263102.6				Dom	yes		10	10q21	8030	T	coiled-coil domain containing 6			E	RET		NSCLC	CCDC6/RET(4)	0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18						c.(931-933)gaG>gaA		coiled-coil domain containing 6							125.0	108.0	114.0					10																	61566751		2203	4300	6503	SO:0001819	synonymous_variant	8030					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	g.chr10:61566751C>T	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"""DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"""	601985	"""DNA segment on chromosome 10 (unique) 170"""	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.933G>A	10.37:g.61566751C>T							p.E311E	NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN		Kidney(211;0.0597)	6	1164	-			311					Q15250|Q6GSG7	Silent	SNP	ENST00000263102.6	37	c.933G>A	CCDS7257.1																																																																																				0.488	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		5	109	0	0	0	1	0	5	109				
VARS2	57176	broad.mit.edu	37	6	30890912	30890912	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:30890912C>T	ENST00000321897.5	+	23	2849	c.2217C>T	c.(2215-2217)gtC>gtT	p.V739V	VARS2_ENST00000542001.1_Silent_p.V599V|VARS2_ENST00000541562.1_Silent_p.V769V|VARS2_ENST00000416670.2_Silent_p.V739V|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	739					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TCTCTGAGGTCCAGAGCTGCC	0.542																																						ENST00000321897.5																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(2215-2217)gtC>gtT		valyl-tRNA synthetase 2, mitochondrial							93.0	98.0	96.0					6																	30890912		1510	2708	4218	SO:0001819	synonymous_variant	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30890912C>T	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2217C>T	6.37:g.30890912C>T						VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000416670.2_Silent_p.V739V|VARS2_ENST00000542001.1_Silent_p.V599V|VARS2_ENST00000541562.1_Silent_p.V769V	p.V739V			Q5ST30	SYVM_HUMAN			23	2849	+			739					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Silent	SNP	ENST00000321897.5	37	c.2217C>T	CCDS34387.1																																																																																				0.542	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		129	139	0	0	0	1	0	129	139				
TEC	7006	broad.mit.edu	37	4	48151675	48151675	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:48151675A>T	ENST00000381501.3	-	11	1062	c.905T>A	c.(904-906)aTa>aAa	p.I302K	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	302	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TGTTTCCTTTATATGATAATG	0.333																																						ENST00000381501.3																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(904-906)aTa>aAa		tec protein tyrosine kinase							172.0	166.0	168.0					4																	48151675		2203	4300	6503	SO:0001583	missense	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48151675A>T	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.905T>A	4.37:g.48151675A>T	ENSP00000370912:p.Ile302Lys					TEC_ENST00000511471.2_5'UTR	p.I302K	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN			11	1062	-			302			SH2.		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	c.905T>A	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.881116	0.91740	.	.	ENSG00000135605	ENST00000381501	D	0.96522	-4.04	5.8	5.8	0.92144	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.98773	0.9587	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99712	1.1007	10	0.87932	D	0	.	16.1606	0.81704	1.0:0.0:0.0:0.0	.	302	P42680	TEC_HUMAN	K	302	ENSP00000370912:I302K	ENSP00000370912:I302K	I	-	2	0	TEC	47846432	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.307000	0.96226	2.227000	0.72691	0.460000	0.39030	ATA		0.333	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			4	80	0	0	0	1	0	4	80				
NSD1	64324	broad.mit.edu	37	5	176562268	176562268	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:176562268G>T	ENST00000439151.2	+	2	209	c.164G>T	c.(163-165)gGa>gTa	p.G55V	NSD1_ENST00000354179.4_Intron|NSD1_ENST00000511258.1_Intron|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.G55V	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	55					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACTGTCAGTGGAACATCCCAA	0.423			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(163-165)gGa>gTa		nuclear receptor binding SET domain protein 1							119.0	105.0	110.0					5																	176562268		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176562268G>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.164G>T	5.37:g.176562268G>T	ENSP00000395929:p.Gly55Val	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Missense_Mutation_p.G55V|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000511258.1_Intron|NSD1_ENST00000347982.4_Intron	p.G55V	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	2	209	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	55					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.164G>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589329	0.46214	.	.	ENSG00000165671	ENST00000439151;ENST00000361032	D;D	0.94330	-3.25;-3.4	5.23	2.39	0.29439	.	0.000000	0.50627	D	0.000114	D	0.85940	0.5814	N	0.08118	0	0.80722	D	1	P;P;B	0.44429	0.835;0.745;0.215	P;B;B	0.46208	0.507;0.425;0.174	D	0.84307	0.0508	10	0.62326	D	0.03	.	7.703	0.28634	0.1528:0.2141:0.6331:0.0	.	55;55;55	Q96L73-3;Q96L73;Q6PJ64	.;NSD1_HUMAN;.	V	55	ENSP00000395929:G55V;ENSP00000354310:G55V	ENSP00000354310:G55V	G	+	2	0	NSD1	176494874	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.204000	0.42761	0.796000	0.33947	0.555000	0.69702	GGA		0.423	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		4	166	1	0	0.150653	1	0.153607	4	166				
EDNRB	1910	broad.mit.edu	37	13	78477314	78477314	+	Missense_Mutation	SNP	C	C	A	rs77132068	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:78477314C>A	ENST00000334286.5	-	3	1014	c.778G>T	c.(778-780)Gtt>Ttt	p.V260F	EDNRB_ENST00000377211.4_Missense_Mutation_p.V350F|EDNRB_ENST00000446573.1_Missense_Mutation_p.V260F	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	260					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	GTCTTCTGAACGGGATGAAGC	0.408													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20053	0.0		0.001	False		,,,				2504	0.0					ENST00000377211.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42						c.(1048-1050)Gtt>Ttt		endothelin receptor type B	Bosentan(DB00559)	C	PHE/VAL,PHE/VAL,PHE/VAL,PHE/VAL	0,4406		0,0,2203	127.0	128.0	128.0		778,778,1048,778	0.3	0.0	13	dbSNP_131	128	19,8581	13.3+/-46.6	0,19,4281	yes	missense,missense,missense,missense	EDNRB	NM_000115.3,NM_001122659.2,NM_001201397.1,NM_003991.3	50,50,50,50	0,19,6484	AA,AC,CC		0.2209,0.0,0.1461	benign,benign,benign,benign	260/443,260/443,350/533,260/437	78477314	19,12987	2203	4300	6503	SO:0001583	missense	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78477314C>A	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.778G>T	13.37:g.78477314C>A	ENSP00000335311:p.Val260Phe					EDNRB_ENST00000446573.1_Missense_Mutation_p.V260F|EDNRB_ENST00000334286.5_Missense_Mutation_p.V260F	p.V350F	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	4	1200	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	260					A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	c.1048G>T	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	C	0.271	-0.992745	0.02162	0.0	0.002209	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.72505	-0.66;-0.66;-0.66	5.62	0.295	0.15752	GPCR, rhodopsin-like superfamily (1);	0.448229	0.28257	N	0.016005	T	0.44074	0.1276	N	0.21282	0.65	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.15052	0.007;0.009;0.012	T	0.13764	-1.0497	10	0.09338	T	0.73	-0.6465	1.8191	0.03106	0.1214:0.2116:0.126:0.5409	.	260;350;260	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	F	350;260;260	ENSP00000366416:V350F;ENSP00000403401:V260F;ENSP00000335311:V260F	ENSP00000335311:V260F	V	-	1	0	EDNRB	77375315	0.000000	0.05858	0.007000	0.13788	0.559000	0.35586	0.083000	0.14871	-0.160000	0.11002	-0.312000	0.09012	GTT		0.408	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			52	121	1	0	2.3318e-11	1	2.65042e-11	52	121				
MPRIP	23164	broad.mit.edu	37	17	17064559	17064559	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:17064559G>C	ENST00000341712.4	+	15	2052	c.2052G>C	c.(2050-2052)gaG>gaC	p.E684D	MPRIP_ENST00000395811.5_Missense_Mutation_p.E684D|MPRIP_ENST00000395804.3_Missense_Mutation_p.E684D|MPRIP_ENST00000444976.1_Missense_Mutation_p.E646D			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	684	Interaction with RHOA.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AACAGCTGGAGCAGAGCCAGA	0.567																																						ENST00000395811.5																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(2050-2052)gaG>gaC		myosin phosphatase Rho interacting protein							27.0	27.0	27.0					17																	17064559		2203	4300	6503	SO:0001583	missense	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17064559G>C	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2052G>C	17.37:g.17064559G>C	ENSP00000342379:p.Glu684Asp					MPRIP_ENST00000444976.1_Missense_Mutation_p.E646D|MPRIP_ENST00000395804.3_Missense_Mutation_p.E684D|MPRIP_ENST00000341712.4_Missense_Mutation_p.E684D	p.E684D	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN			15	2141	+			684			Interaction with RHOA.		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	c.2052G>C	CCDS32578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.22|17.22	3.335228|3.335228	0.60853|0.60853	.|.	.|.	ENSG00000133030|ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712|ENST00000423885	T;T;T;T|.	0.27557|.	1.66;1.99;2.0;2.0|.	5.32|5.32	2.85|2.85	0.33270|0.33270	.|.	.|.	.|.	.|.	.|.	T|T	0.33000|0.33000	0.0848|0.0848	N|N	0.08118|0.08118	0|0	0.48632|0.48632	D|D	0.999687|0.999687	D;P|.	0.76494|.	0.999;0.924|.	D;P|.	0.77557|.	0.99;0.452|.	T|T	0.05131|0.05131	-1.0904|-1.0904	9|5	0.51188|.	T|.	0.08|.	.|.	10.3773|10.3773	0.44090|0.44090	0.1847:0.0:0.8153:0.0|0.1847:0.0:0.8153:0.0	.|.	684;684|.	Q6WCQ1-2;Q6WCQ1|.	.;MPRIP_HUMAN|.	D|T	646;684;684;684|171	ENSP00000400189:E646D;ENSP00000379156:E684D;ENSP00000379149:E684D;ENSP00000342379:E684D|.	ENSP00000342379:E684D|.	E|S	+|+	3|2	2|0	MPRIP|MPRIP	17005284|17005284	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.736000|0.736000	0.42039|0.42039	1.829000|1.829000	0.39121|0.39121	0.634000|0.634000	0.30469|0.30469	-0.251000|-0.251000	0.11542|0.11542	GAG|AGC		0.567	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		15	9	0	0	0	1	0	15	9				
MSANTD4	84437	broad.mit.edu	37	11	105880839	105880839	+	Splice_Site	SNP	T	T	A	rs200213533		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:105880839T>A	ENST00000301919.4	-	3	1878		c.e3-2		MSANTD4_ENST00000529805.1_5'Flank	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils							nucleus (GO:0005634)											AATTTCAAACTAAGAGCAAAG	0.368																																						ENST00000301919.4																			0											c.e3-2		Myb/SANT-like DNA-binding domain containing 4 with coiled-coils							57.0	60.0	59.0					11																	105880839		2201	4299	6500	SO:0001630	splice_region_variant	84437					nucleus		g.chr11:105880839T>A	AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"""KIAA1826"""	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.463-2A>T	11.37:g.105880839T>A								NM_032424.1	NP_115800.1	Q8NCY6	K1826_HUMAN			3	1878	-								Q96JK1|Q96JZ3|Q9H2N4	Splice_Site	SNP	ENST00000301919.4	37		CCDS31663.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.782076	0.49891	.	.	ENSG00000170903	ENST00000301919;ENST00000530788	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8906	0.79293	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1826	105386049	0.999000	0.42202	0.992000	0.48379	0.784000	0.44337	3.595000	0.54016	2.160000	0.67779	0.402000	0.26972	.		0.368	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388619.1	NM_032424	Intron	7	123	0	0	0	1	0	7	123				
CWH43	80157	broad.mit.edu	37	4	49019264	49019264	+	Splice_Site	SNP	A	A	T	rs201595459		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:49019264A>T	ENST00000226432.4	+	9	1369		c.e9-1		CWH43_ENST00000513409.1_Splice_Site	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)						GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTTTCTGTTTAGTTCTGTGGC	0.378																																						ENST00000226432.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.e9-1		cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)							80.0	79.0	79.0					4																	49019264		2203	4300	6503	SO:0001630	splice_region_variant	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49019264A>T		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1187-1A>T	4.37:g.49019264A>T						CWH43_ENST00000513409.1_Splice_Site		NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN			9	1369	+								B2RPD7	Splice_Site	SNP	ENST00000226432.4	37		CCDS3486.1	.	.	.	.	.	.	.	.	.	.	A	15.65	2.895392	0.52121	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	.	.	.	4.46	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.434	0.55588	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CWH43	48714021	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	5.030000	0.64128	2.012000	0.59069	0.477000	0.44152	.		0.378	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087	Intron	5	33	0	0	0	1	0	5	33				
KIAA1549	57670	broad.mit.edu	37	7	138602905	138602905	+	Silent	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:138602905A>G	ENST00000422774.1	-	2	1515	c.1467T>C	c.(1465-1467)ccT>ccC	p.P489P	KIAA1549_ENST00000440172.1_Silent_p.P489P|KIAA1549_ENST00000242365.4_Silent_p.P439P			Q9HCM3	K1549_HUMAN	KIAA1549	489						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTGGGACGATAGGTCTGGAGG	0.458			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(1465-1467)ccT>ccC		KIAA1549							35.0	35.0	35.0					7																	138602905		1932	4151	6083	SO:0001819	synonymous_variant	57670					integral to membrane		g.chr7:138602905A>G		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.1467T>C	7.37:g.138602905A>G						KIAA1549_ENST00000242365.4_Silent_p.P439P|KIAA1549_ENST00000422774.1_Silent_p.P489P	p.P489P	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			2	1515	-			489					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.1467T>C	CCDS56513.1																																																																																				0.458	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			45	78	0	0	0	1	0	45	78				
EPS15L1	58513	broad.mit.edu	37	19	16539554	16539554	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:16539554T>A	ENST00000248070.6	-	8	656	c.517A>T	c.(517-519)Att>Ttt	p.I173F	EPS15L1_ENST00000455140.2_Missense_Mutation_p.I173F|EPS15L1_ENST00000597937.1_Missense_Mutation_p.I173F|EPS15L1_ENST00000535753.2_Missense_Mutation_p.I173F|EPS15L1_ENST00000594975.1_Missense_Mutation_p.I173F|EPS15L1_ENST00000602009.1_Missense_Mutation_p.I19F	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	173	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TCCTTGTCAATGTCACTGAGG	0.577																																						ENST00000602009.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						c.(55-57)Att>Ttt		epidermal growth factor receptor pathway substrate 15-like 1							127.0	75.0	93.0					19																	16539554		2203	4300	6503	SO:0001583	missense	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16539554T>A	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.517A>T	19.37:g.16539554T>A	ENSP00000248070:p.Ile173Phe					EPS15L1_ENST00000248070.6_Missense_Mutation_p.I173F|EPS15L1_ENST00000455140.2_Missense_Mutation_p.I173F|EPS15L1_ENST00000594975.1_Missense_Mutation_p.I173F|EPS15L1_ENST00000535753.2_Missense_Mutation_p.I173F|EPS15L1_ENST00000597937.1_Missense_Mutation_p.I173F	p.I19F			Q9UBC2	EP15R_HUMAN			2	950	-			173			EH 1.		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	c.55A>T	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	t	20.3	3.971262	0.74246	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.39056	1.1;1.1;1.1	4.87	4.87	0.63330	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.60379	0.2264	M	0.73753	2.245	0.58432	D	0.999994	D;D;D;D;D;D	0.76494	0.992;0.996;0.999;0.999;0.998;0.995	D;D;D;D;D;D	0.76575	0.944;0.972;0.988;0.988;0.985;0.965	T	0.59161	-0.7506	10	0.13470	T	0.59	.	13.706	0.62639	0.0:0.0:0.0:1.0	.	173;173;172;173;173;173	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	F	173	ENSP00000393313:I173F;ENSP00000248070:I173F;ENSP00000440103:I173F	ENSP00000248070:I173F	I	-	1	0	EPS15L1	16400554	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	3.927000	0.56499	1.835000	0.53391	0.449000	0.29647	ATT		0.577	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		17	59	0	0	0	1	0	17	59				
XKR8	55113	broad.mit.edu	37	1	28293158	28293158	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:28293158G>A	ENST00000373884.5	+	3	1243	c.635G>A	c.(634-636)tGg>tAg	p.W212*	XKR8_ENST00000481387.1_3'UTR	NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	212					engulfment of apoptotic cell (GO:0043652)|phosphatidylserine exposure on apoptotic cell surface (GO:0070782)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		CTGCTGCTGTGGCCCCGAGTC	0.662																																						ENST00000373884.5																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(634-636)tGg>tAg		XK, Kell blood group complex subunit-related family, member 8							95.0	90.0	91.0					1																	28293158		2203	4300	6503	SO:0001587	stop_gained	55113					integral to membrane		g.chr1:28293158G>A	AK091615	CCDS315.1	1p35.3	2008-02-05	2006-01-12		ENSG00000158156	ENSG00000158156			25508	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 8"""			12477932	Standard	NM_018053		Approved	FLJ10307	uc001bph.1	Q9H6D3	OTTHUMG00000003912	ENST00000373884.5:c.635G>A	1.37:g.28293158G>A	ENSP00000362991:p.Trp212*					XKR8_ENST00000481387.1_3'UTR	p.W212*	NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)	3	1243	+		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	212						Nonsense_Mutation	SNP	ENST00000373884.5	37	c.635G>A	CCDS315.1	.	.	.	.	.	.	.	.	.	.	G	40	8.128936	0.98667	.	.	ENSG00000158156	ENST00000373884	.	.	.	5.25	4.28	0.50868	.	0.370506	0.28504	N	0.015107	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	10.4465	0.44497	0.0:0.1446:0.7057:0.1497	.	.	.	.	X	212	.	ENSP00000362991:W212X	W	+	2	0	XKR8	28165745	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.213000	0.51153	2.461000	0.83175	0.609000	0.83330	TGG		0.662	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011175.1	NM_018053		5	89	0	0	0	1	0	5	89				
KCNH7	90134	broad.mit.edu	37	2	163228383	163228383	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:163228383C>A	ENST00000332142.5	-	16	3646	c.3547G>T	c.(3547-3549)Ggt>Tgt	p.G1183C		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1183					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CTATGAAGACCCACGATTCCT	0.408																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(3547-3549)Ggt>Tgt		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						103.0	92.0	95.0					2																	163228383		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163228383C>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.3547G>T	2.37:g.163228383C>A	ENSP00000331727:p.Gly1183Cys						p.G1183C	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			16	3646	-			1183					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.3547G>T	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061144	0.55432	.	.	ENSG00000184611	ENST00000332142	D	0.98617	-5.03	5.43	4.56	0.56223	.	0.104641	0.64402	D	0.000004	D	0.96599	0.8890	N	0.24115	0.695	0.80722	D	1	P	0.46020	0.871	P	0.47430	0.547	D	0.96242	0.9176	10	0.72032	D	0.01	.	10.8297	0.46652	0.0:0.8359:0.0:0.1641	.	1183	Q9NS40	KCNH7_HUMAN	C	1183	ENSP00000331727:G1183C	ENSP00000331727:G1183C	G	-	1	0	KCNH7	162936629	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.096000	0.50243	1.303000	0.44873	0.563000	0.77884	GGT		0.408	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		7	230	1	0	5.18039e-06	1	5.54607e-06	7	230				
AGO1	26523	broad.mit.edu	37	1	36367579	36367579	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:36367579T>C	ENST00000373204.4	+	10	1384	c.1171T>C	c.(1171-1173)Tac>Cac	p.Y391H	AGO1_ENST00000373206.1_Missense_Mutation_p.Y316H	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	391					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CTTAGATCCCTACATCCAGGA	0.537																																						ENST00000373204.4																			0											c.(1171-1173)Tac>Cac		argonaute RISC catalytic component 1							95.0	89.0	91.0					1																	36367579		2203	4300	6503	SO:0001583	missense	26523							g.chr1:36367579T>C	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1171T>C	1.37:g.36367579T>C	ENSP00000362300:p.Tyr391His					AGO1_ENST00000373206.1_Missense_Mutation_p.Y316H	p.Y391H	NM_012199.2	NP_036331.1					10	1384	+								Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	c.1171T>C	CCDS398.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.840532	0.51057	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.05382	3.45;3.45	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.10551	0.0258	L	0.56199	1.76	0.80722	D	1	B	0.18741	0.03	B	0.23018	0.043	T	0.02721	-1.1119	10	0.59425	D	0.04	-23.2829	16.6093	0.84858	0.0:0.0:0.0:1.0	.	391	Q9UL18	AGO1_HUMAN	H	316;391	ENSP00000362302:Y316H;ENSP00000362300:Y391H	ENSP00000362300:Y391H	Y	+	1	0	EIF2C1	36140166	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	8.040000	0.89188	2.324000	0.78689	0.533000	0.62120	TAC		0.537	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			3	150	0	0	0	1	0	3	150				
EML5	161436	broad.mit.edu	37	14	89154613	89154613	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:89154613A>T	ENST00000380664.5	-	18	2742		c.e18+1		EML5_ENST00000352093.5_Splice_Site|EML5_ENST00000554922.1_Splice_Site			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TAGGTTACTTACTTTTTCCAA	0.383																																						ENST00000554922.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.e18+1		echinoderm microtubule associated protein like 5							202.0	194.0	196.0					14																	89154613		1870	4103	5973	SO:0001630	splice_region_variant	161436					cytoplasm|microtubule		g.chr14:89154613A>T	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2742+1T>A	14.37:g.89154613A>T						EML5_ENST00000352093.5_Splice_Site|EML5_ENST00000380664.5_Splice_Site		NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN			18	2991	-								B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Splice_Site	SNP	ENST00000380664.5	37		CCDS45148.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.340895	0.81911	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7154	0.69265	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EML5	88224366	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.930000	0.75858	2.130000	0.65690	0.533000	0.62120	.		0.383	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1		Intron	9	722	0	0	0	1	0	9	722				
ZNF195	7748	broad.mit.edu	37	11	3380510	3380510	+	Silent	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:3380510T>C	ENST00000399602.4	-	6	1854	c.1728A>G	c.(1726-1728)aaA>aaG	p.K576K	ZNF195_ENST00000005082.9_Silent_p.K553K|ZNF195_ENST00000429541.2_Silent_p.K508K|ZNF195_ENST00000354599.6_Silent_p.K504K|ZNF195_ENST00000526601.1_Silent_p.K557K|ZNF195_ENST00000343338.7_Silent_p.K508K|ZNF195_ENST00000528796.1_Intron	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	576					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATTTGTAGGGTTTCTCTCCAG	0.393																																						ENST00000354599.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(1510-1512)aaA>aaG		zinc finger protein 195																																				SO:0001819	synonymous_variant	7748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3380510T>C		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1728A>G	11.37:g.3380510T>C						ZNF195_ENST00000343338.7_Silent_p.K508K|ZNF195_ENST00000399602.4_Silent_p.K576K|ZNF195_ENST00000429541.2_Silent_p.K508K|ZNF195_ENST00000526601.1_Silent_p.K557K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000005082.9_Silent_p.K553K	p.K504K	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	4	1616	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	576					A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Silent	SNP	ENST00000399602.4	37	c.1512A>G	CCDS44522.1																																																																																				0.393	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			5	205	0	0	0	1	0	5	205				
EIF1	10209	broad.mit.edu	37	17	39846195	39846195	+	Splice_Site	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:39846195T>C	ENST00000469257.1	+	2	341		c.e2+2		JUP_ENST00000540235.1_Intron|EIF1_ENST00000310837.4_Intron|EIF1_ENST00000591776.1_Splice_Site			P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1						dosage compensation by inactivation of X chromosome (GO:0009048)|regulation of translational initiation (GO:0006446)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TTTAAGAAAGTAGGTCTTCAG	0.423											OREG0024409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(176;1692 2837 16734 17588)	ENST00000469257.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5						c.e2+2		eukaryotic translation initiation factor 1							69.0	68.0	68.0					17																	39846195		2203	4300	6503	SO:0001630	splice_region_variant	10209				regulation of translational initiation|response to stress	cytoplasm	translation initiation factor activity	g.chr17:39846195T>C	AF083441	CCDS11403.1	17q21.2	2006-02-02			ENSG00000173812	ENSG00000173812			3249	protein-coding gene	gene with protein product						7904817, 10347211	Standard	NM_005801		Approved	EIF-1, ISO1, A121, SUI1, EIF1A	uc002hxj.3	P41567	OTTHUMG00000133492	ENST00000469257.1:c.195+2T>C	17.37:g.39846195T>C			OREG0024409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	EIF1_ENST00000310837.4_Intron|JUP_ENST00000540235.1_Intron|EIF1_ENST00000591776.1_Splice_Site				P41567	EIF1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		2	341	+		Breast(137;0.000307)						Q9UNQ9	Splice_Site	SNP	ENST00000469257.1	37		CCDS11403.1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.192317	0.38707	.	.	ENSG00000173812	ENST00000469257	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4129	0.67128	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF1	37099721	1.000000	0.71417	0.943000	0.38184	0.415000	0.31203	6.054000	0.71096	1.993000	0.58246	0.379000	0.24179	.		0.423	EIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257390.1	NM_005801	Intron	49	91	0	0	0	1	0	49	91				
TNNT2	7139	broad.mit.edu	37	1	201335996	201335996	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:201335996C>A	ENST00000509001.1	-	7	459	c.173G>T	c.(172-174)gGc>gTc	p.G58V	TNNT2_ENST00000367315.2_Missense_Mutation_p.G58V|TNNT2_ENST00000367322.1_Missense_Mutation_p.G58V|TNNT2_ENST00000360372.4_Missense_Mutation_p.G53V|TNNT2_ENST00000460780.1_5'Flank|TNNT2_ENST00000458432.2_Missense_Mutation_p.G70V|TNNT2_ENST00000367320.2_Missense_Mutation_p.G67V|TNNT2_ENST00000421663.2_Missense_Mutation_p.G60V|TNNT2_ENST00000367318.5_Missense_Mutation_p.G58V|TNNT2_ENST00000367317.4_Missense_Mutation_p.G58V|TNNT2_ENST00000236918.7_Missense_Mutation_p.G63V	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	68					ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						CTCCATTGGGCCATCTGGAGG	0.597																																						ENST00000509001.1																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						c.(172-174)gGc>gTc		troponin T type 2 (cardiac)							89.0	85.0	86.0					1																	201335996		2203	4300	6503	SO:0001583	missense	7139				ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr1:201335996C>A	X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"""troponin T2, cardiac"", ""cardiomyopathy, hypertrophic 2"", ""cardiomyopathy, dilated 1D (autosomal dominant)"""	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.173G>T	1.37:g.201335996C>A	ENSP00000422031:p.Gly58Val					TNNT2_ENST00000367320.2_Missense_Mutation_p.G67V|TNNT2_ENST00000367322.1_Missense_Mutation_p.G58V|TNNT2_ENST00000236918.7_Missense_Mutation_p.G63V|TNNT2_ENST00000360372.4_Missense_Mutation_p.G53V|TNNT2_ENST00000458432.2_Missense_Mutation_p.G70V|TNNT2_ENST00000421663.2_Missense_Mutation_p.G60V|TNNT2_ENST00000367318.5_Missense_Mutation_p.G58V|TNNT2_ENST00000367315.2_Missense_Mutation_p.G58V|TNNT2_ENST00000367317.4_Missense_Mutation_p.G58V	p.G58V	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN			7	459	-			68					A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	Missense_Mutation	SNP	ENST00000509001.1	37	c.173G>T	CCDS30969.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.448174	0.63178	.	.	ENSG00000118194	ENST00000367322;ENST00000367318;ENST00000458432;ENST00000421663;ENST00000236918;ENST00000367317;ENST00000367315;ENST00000360372;ENST00000357848;ENST00000367320;ENST00000509001;ENST00000438742;ENST00000455702;ENST00000422165;ENST00000412633	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99445	-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91	4.67	3.74	0.42951	.	0.488362	0.20948	N	0.082811	D	0.98030	0.9351	N	0.24115	0.695	0.80722	D	1	P;D;P;P;D	0.58268	0.906;0.982;0.94;0.94;0.964	B;P;B;B;P	0.54140	0.346;0.743;0.331;0.331;0.531	D	0.95982	0.8978	10	0.31617	T	0.26	-22.1946	8.0539	0.30593	0.0:0.8891:0.0:0.1109	.	53;67;68;58;68	E7EPW4;P45379-3;P45379;Q9BUF6;P45379-10	.;.;TNNT2_HUMAN;.;.	V	58;58;70;60;63;58;58;53;54;67;58;53;68;63;57	ENSP00000356291:G58V;ENSP00000356287:G58V;ENSP00000387874:G70V;ENSP00000404134:G60V;ENSP00000236918:G63V;ENSP00000356286:G58V;ENSP00000356284:G58V;ENSP00000353535:G53V;ENSP00000356289:G67V;ENSP00000422031:G58V;ENSP00000414036:G53V;ENSP00000402238:G68V;ENSP00000395163:G63V;ENSP00000408731:G57V	ENSP00000236918:G63V	G	-	2	0	TNNT2	199602619	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	1.326000	0.33735	2.296000	0.77279	0.561000	0.74099	GGC		0.597	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360358.1	NM_000364		47	87	1	0	5.13769e-22	1	5.99397e-22	47	87				
GPR115	221393	broad.mit.edu	37	6	47682442	47682442	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:47682442G>A	ENST00000283303.2	+	6	1719	c.1461G>A	c.(1459-1461)ctG>ctA	p.L487L	RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Silent_p.L487L|GPR115_ENST00000371220.1_Silent_p.L544L	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	487					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						ACCTCTCTCTGTTTTTCTGGA	0.408																																					GBM(22;431 510 9010 26644 32828)	ENST00000283303.2																			0				NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						c.(1459-1461)ctG>ctA		G protein-coupled receptor 115							222.0	210.0	214.0					6																	47682442		2203	4300	6503	SO:0001819	synonymous_variant	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47682442G>A	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1461G>A	6.37:g.47682442G>A						GPR115_ENST00000327753.3_Silent_p.L487L|GPR115_ENST00000371220.1_Silent_p.L544L	p.L487L	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN			6	1719	+			487					B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Silent	SNP	ENST00000283303.2	37	c.1461G>A	CCDS4922.2																																																																																				0.408	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		17	2489	0	0	0	1	0	17	2489				
PAOX	196743	broad.mit.edu	37	10	135197645	135197645	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:135197645G>A	ENST00000278060.5	+	4	1133	c.1050G>A	c.(1048-1050)gaG>gaA	p.E350E	PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000357296.3_Silent_p.E350E|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000480071.2_Intron	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	488					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		CGCCCCTGGAGGATGCTGCCC	0.582																																						ENST00000278060.5																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23						c.(1048-1050)gaG>gaA		polyamine oxidase (exo-N4-amino)							126.0	103.0	111.0					10																	135197645		2203	4300	6503	SO:0001819	synonymous_variant	196743				polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	g.chr10:135197645G>A	BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.1050G>A	10.37:g.135197645G>A						PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000480071.2_Intron|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000357296.3_Silent_p.E350E	p.E350E	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	4	1133	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	488					D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Silent	SNP	ENST00000278060.5	37	c.1050G>A	CCDS7683.1	.	.	.	.	.	.	.	.	.	.	g	0.042	-1.280187	0.01398	.	.	ENSG00000148832	ENST00000539775	.	.	.	4.98	1.97	0.26223	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2033	0.10476	0.1801:0.0:0.5256:0.2943	.	.	.	.	.	-1	.	.	.	+	.	.	PAOX	135047635	0.004000	0.15560	0.076000	0.20297	0.064000	0.16182	0.155000	0.16362	0.690000	0.31570	0.558000	0.71614	.		0.582	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051146.2	NM_152911		3	92	0	0	0	1	0	3	92				
GOLM1	51280	broad.mit.edu	37	9	88642810	88642810	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:88642810T>A	ENST00000388712.3	-	10	1298		c.e10-2		GOLM1_ENST00000388711.3_Splice_Site	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1						nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CATTAAAAACTAAAAAGGAAA	0.323																																						ENST00000388712.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						c.e10-2		golgi membrane protein 1							69.0	65.0	66.0					9																	88642810		2202	4299	6501	SO:0001630	splice_region_variant	51280					Golgi apparatus|integral to plasma membrane		g.chr9:88642810T>A	AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"""golgi phosphoprotein 2"", ""chromosome 9 open reading frame 155"""	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.1130-2A>T	9.37:g.88642810T>A						GOLM1_ENST00000388711.3_Splice_Site		NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN			10	1298	-								Q6IAF4|Q9NRB9	Splice_Site	SNP	ENST00000388712.3	37		CCDS35054.1	.	.	.	.	.	.	.	.	.	.	t	17.80	3.478394	0.63849	.	.	ENSG00000135052	ENST00000388712;ENST00000388711	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3081	0.49347	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GOLM1	87832630	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	3.047000	0.49854	2.233000	0.73108	0.533000	0.62120	.		0.323	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052904.2	NM_177937	Intron	8	55	0	0	0	1	0	8	55				
HSPH1	10808	broad.mit.edu	37	13	31726989	31726989	+	Splice_Site	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:31726989C>T	ENST00000320027.5	-	5	873	c.529G>A	c.(529-531)Gtt>Att	p.V177I	HSPH1_ENST00000445273.2_Splice_Site_p.V179I|HSPH1_ENST00000380405.4_Splice_Site_p.V177I|HSPH1_ENST00000380406.5_Splice_Site_p.V136I|HSPH1_ENST00000429785.2_Intron	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	177					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTTTCCTTACCAGCTGTCATG	0.398																																						ENST00000320027.5																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.e5+1		heat shock 105kDa/110kDa protein 1							245.0	237.0	240.0					13																	31726989		2203	4299	6502	SO:0001630	splice_region_variant	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31726989C>T	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.529+1G>A	13.37:g.31726989C>T						HSPH1_ENST00000445273.2_Splice_Site_p.V179_splice|HSPH1_ENST00000429785.2_Intron|HSPH1_ENST00000380405.4_Splice_Site_p.V177_splice|HSPH1_ENST00000380406.5_Splice_Site_p.V136_splice	p.V177_splice	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	5	873	-		Lung SC(185;0.0257)	177					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Splice_Site	SNP	ENST00000320027.5	37	c.529_splice	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787243	0.90367	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000438061	T;T;T;T	0.04119	5.48;5.48;3.7;5.48	5.15	5.15	0.70609	.	0.145351	0.44902	D	0.000419	T	0.16041	0.0386	L	0.42632	1.34	0.80722	D	1	P;D;D;D	0.76494	0.918;0.999;0.985;0.999	P;D;P;D	0.76071	0.749;0.987;0.868;0.983	T	0.01600	-1.1315	9	.	.	.	-23.8898	18.9909	0.92791	0.0:1.0:0.0:0.0	.	136;179;177;177	Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;HS105_HUMAN	I	177;177;136;179;228	ENSP00000318687:V177I;ENSP00000369768:V177I;ENSP00000369769:V136I;ENSP00000396090:V179I	.	V	-	1	0	HSPH1	30624989	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	7.445000	0.80570	2.553000	0.86117	0.591000	0.81541	GTT		0.398	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1		Missense_Mutation	11	479	0	0	0	1	0	11	479				
FBN2	2201	broad.mit.edu	37	5	127627236	127627236	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:127627236C>T	ENST00000508053.1	-	55	7251	c.6277G>A	c.(6277-6279)Gga>Aga	p.G2093R	FBN2_ENST00000262464.4_Missense_Mutation_p.G2093R			P35556	FBN2_HUMAN	fibrillin 2	2093	EGF-like 35; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CATCTCCGTCCATTATCAGAT	0.438																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(6277-6279)Gga>Aga		fibrillin 2							85.0	94.0	91.0					5																	127627236		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127627236C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.6277G>A	5.37:g.127627236C>T	ENSP00000424571:p.Gly2093Arg					FBN2_ENST00000262464.4_Missense_Mutation_p.G2093R	p.G2093R			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	55	7251	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2093			EGF-like 35; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.6277G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678620	0.68042	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.96554	-4.05;-4.05	5.34	5.34	0.76211	Matrix fibril-associated (1);EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000006	D	0.97873	0.9301	M	0.80616	2.505	0.43579	D	0.99591	D	0.54601	0.967	P	0.60949	0.881	D	0.97647	1.0152	10	0.52906	T	0.07	.	19.5946	0.95530	0.0:1.0:0.0:0.0	.	2093	P35556	FBN2_HUMAN	R	2093	ENSP00000262464:G2093R;ENSP00000424571:G2093R	ENSP00000262464:G2093R	G	-	1	0	FBN2	127655135	0.999000	0.42202	0.978000	0.43139	0.747000	0.42532	3.498000	0.53302	2.937000	0.99478	0.650000	0.86243	GGA		0.438	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		21	201	0	0	0	1	0	21	201				
KLF13	51621	broad.mit.edu	37	15	31664225	31664225	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:31664225T>C	ENST00000307145.3	+	2	948	c.590T>C	c.(589-591)tTc>tCc	p.F197S	KLF13_ENST00000560473.1_Missense_Mutation_p.F9S	NM_015995.2	NP_057079.2	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13	197					negative regulation of cell proliferation (GO:0008285)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)	2		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)		GAGAGGCCCTTCGCCTGCAGC	0.662																																						ENST00000307145.3																			0				NS(1)|breast(1)	2						c.(589-591)tTc>tCc		Kruppel-like factor 13							19.0	18.0	18.0					15																	31664225		2200	4296	6496	SO:0001583	missense	51621				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr15:31664225T>C	AF132599	CCDS10025.1	15q13.3	2013-01-08			ENSG00000169926	ENSG00000169926		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	13672	protein-coding gene	gene with protein product		605328				10415854, 10023774	Standard	NM_015995		Approved	RFLAT-1, BTEB3, NSLP1, FKLF-2	uc001zfo.3	Q9Y2Y9	OTTHUMG00000172224	ENST00000307145.3:c.590T>C	15.37:g.31664225T>C	ENSP00000302456:p.Phe197Ser					KLF13_ENST00000560473.1_Missense_Mutation_p.F9S	p.F197S	NM_015995.2	NP_057079.2	Q9Y2Y9	KLF13_HUMAN		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)	2	948	+		all_lung(180;3.71e-11)	197					Q9Y356	Missense_Mutation	SNP	ENST00000307145.3	37	c.590T>C	CCDS10025.1	.	.	.	.	.	.	.	.	.	.	T	30	5.055255	0.93793	.	.	ENSG00000169926	ENST00000307145	T	0.24908	1.83	5.07	5.07	0.68467	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.54759	0.1878	M	0.82716	2.605	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	T	0.62426	-0.6857	10	0.87932	D	0	.	15.116	0.72404	0.0:0.0:0.0:1.0	.	197	Q9Y2Y9	KLF13_HUMAN	S	197	ENSP00000302456:F197S	ENSP00000302456:F197S	F	+	2	0	KLF13	29451517	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.540000	0.82074	2.036000	0.60181	0.533000	0.62120	TTC		0.662	KLF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251381.1	NM_015995		4	8	0	0	0	1	0	4	8				
ABLIM3	22885	broad.mit.edu	37	5	148637920	148637920	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:148637920G>T	ENST00000506113.1	+	23	2487	c.2005G>T	c.(2005-2007)Gcc>Tcc	p.A669S	ABLIM3_ENST00000508983.1_Missense_Mutation_p.A636S|RP11-331K21.1_ENST00000512647.2_RNA|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000504238.1_Intron|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.A574S|ABLIM3_ENST00000309868.7_Missense_Mutation_p.A669S|ABLIM3_ENST00000517451.1_Missense_Mutation_p.A155S|ABLIM3_ENST00000356541.3_Intron			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	669	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)	p.A669S(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACCGGCTGGCCCTCTGGAA	0.502																																						ENST00000506113.1																			2	Substitution - Missense(2)	p.A669S(2)	endometrium(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2005-2007)Gcc>Tcc		actin binding LIM protein family, member 3							58.0	57.0	57.0					5																	148637920		2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148637920G>T	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.2005G>T	5.37:g.148637920G>T	ENSP00000425394:p.Ala669Ser					RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000517451.1_Missense_Mutation_p.A155S|ABLIM3_ENST00000508983.1_Missense_Mutation_p.A636S|ABLIM3_ENST00000309868.7_Missense_Mutation_p.A669S|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.A574S|ABLIM3_ENST00000356541.3_Intron|ABLIM3_ENST00000504238.1_Intron	p.A669S			O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		23	2487	+			669			HP.		A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.2005G>T	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329622	0.95733	.	.	ENSG00000173210	ENST00000326685;ENST00000309868;ENST00000506113;ENST00000508983;ENST00000517451;ENST00000536903	T;T;T;T;T	0.56444	0.46;0.51;0.51;0.52;0.88	5.86	5.86	0.93980	Villin headpiece (5);	0.000000	0.85682	D	0.000000	T	0.63733	0.2536	N	0.25890	0.77	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.91635	0.997;0.987;0.999	T	0.62779	-0.6782	10	0.46703	T	0.11	.	20.1802	0.98196	0.0:0.0:1.0:0.0	.	155;574;669	O94929-4;O94929-3;O94929	.;.;ABLM3_HUMAN	S	574;669;669;636;155;154	ENSP00000315841:A574S;ENSP00000310309:A669S;ENSP00000425394:A669S;ENSP00000420855:A636S;ENSP00000430150:A155S	ENSP00000310309:A669S	A	+	1	0	ABLIM3	148618113	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.859000	0.99545	2.783000	0.95769	0.542000	0.68232	GCC		0.502	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		12	206	1	0	1.05317e-09	1	1.17234e-09	12	206				
TIE1	7075	broad.mit.edu	37	1	43777389	43777389	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:43777389C>A	ENST00000372476.3	+	10	1460	c.1381C>A	c.(1381-1383)Cgc>Agc	p.R461S	TIE1_ENST00000433781.2_Missense_Mutation_p.R106S	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	461	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAAGCAGAGCCGCCAGCTTGT	0.647																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(1381-1383)Cgc>Agc		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							54.0	56.0	55.0					1																	43777389		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43777389C>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1381C>A	1.37:g.43777389C>A	ENSP00000361554:p.Arg461Ser					TIE1_ENST00000433781.2_Missense_Mutation_p.R106S	p.R461S	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			10	1460	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	461			Fibronectin type-III 1.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.1381C>A	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243269	0.79912	.	.	ENSG00000066056	ENST00000372476;ENST00000433781	T;T	0.54479	0.57;0.57	5.17	5.17	0.71159	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.36555	N	0.002525	T	0.64875	0.2638	L	0.50333	1.59	0.49213	D	0.99976	D;D;D;D;D	0.76494	0.98;0.988;0.999;0.984;0.988	P;P;D;P;P	0.69654	0.671;0.87;0.965;0.779;0.88	T	0.57711	-0.7764	10	0.11794	T	0.64	.	18.6697	0.91506	0.0:1.0:0.0:0.0	.	106;416;461;106;461	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	S	461;106	ENSP00000361554:R461S;ENSP00000411728:R106S	ENSP00000361554:R461S	R	+	1	0	TIE1	43549976	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.058000	0.57463	2.421000	0.82119	0.563000	0.77884	CGC		0.647	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		6	93	1	0	0.0293803	1	0.0302103	6	93				
LRIG3	121227	broad.mit.edu	37	12	59284527	59284527	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:59284527C>G	ENST00000320743.3	-	4	721	c.435G>C	c.(433-435)caG>caC	p.Q145H	LRIG3_ENST00000379141.4_Missense_Mutation_p.Q85H	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	145					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTTCAAGGGACTGAAACTCTT	0.388			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(433-435)caG>caC		leucine-rich repeats and immunoglobulin-like domains 3							89.0	88.0	88.0					12																	59284527		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59284527C>G	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.435G>C	12.37:g.59284527C>G	ENSP00000326759:p.Gln145His					LRIG3_ENST00000379141.4_Missense_Mutation_p.Q85H	p.Q145H	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		4	721	-			145					Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.435G>C	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900963	0.33535	.	.	ENSG00000139263	ENST00000379141;ENST00000320743;ENST00000552267	T;T;T	0.10099	2.91;2.91;2.91	5.87	-10.7	0.00240	.	0.000000	0.34932	N	0.003566	T	0.11153	0.0272	L	0.48935	1.535	0.25947	N	0.982799	B;D	0.54397	0.014;0.966	B;P	0.55161	0.038;0.77	T	0.06625	-1.0816	9	.	.	.	.	8.9497	0.35781	0.1688:0.2603:0.0:0.5709	.	85;145	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	H	85;145;52	ENSP00000368436:Q85H;ENSP00000326759:Q145H;ENSP00000449109:Q52H	.	Q	-	3	2	LRIG3	57570794	0.000000	0.05858	0.276000	0.24689	0.989000	0.77384	-2.932000	0.00688	-2.071000	0.00880	-0.290000	0.09829	CAG		0.388	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		11	49	0	0	0	1	0	11	49				
SC5D	6309	broad.mit.edu	37	11	121177998	121177998	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:121177998C>T	ENST00000392789.2	+	5	914	c.677C>T	c.(676-678)tCa>tTa	p.S226L	SC5D_ENST00000534230.1_Intron|SC5D_ENST00000264027.4_Missense_Mutation_p.S226L	NM_001024956.2	NP_001020127.1	O75845	SC5D_HUMAN	sterol-C5-desaturase	226				PQILQPFINGSAHHTDHHMFFDYNYGQYFTLWDRIGGSFKN PSSFEGKGPLSYVKEMTEGKRSSHSGNGCKNEKLFNGEFTK TE -> RMKNYSMESLQRLNRLLPSYS (in Ref. 1; BAA18970). {ECO:0000305}.	cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via lathosterol (GO:0033490)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	C-5 sterol desaturase activity (GO:0000248)|iron ion binding (GO:0005506)|lathosterol oxidase activity (GO:0050046)										ATTAATGGCTCAGCTCATCAT	0.373																																						ENST00000264027.4																			0											c.(676-678)tCa>tTa		sterol-C5-desaturase							158.0	159.0	159.0					11																	121177998		2203	4299	6502	SO:0001583	missense	6309							g.chr11:121177998C>T		CCDS8435.1	11q23.3	2013-03-04	2013-03-04	2013-03-04	ENSG00000109929	ENSG00000109929	1.14.21.6	"""Fatty acid hydroxylase domain containing"""	10547	protein-coding gene	gene with protein product	"""lathosterol oxidase"""	602286	"""sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like"""	SC5DL		8976377	Standard	NM_006918		Approved		uc001pxu.3	O75845	OTTHUMG00000166068	ENST00000392789.2:c.677C>T	11.37:g.121177998C>T	ENSP00000376539:p.Ser226Leu					SC5D_ENST00000534230.1_Intron|SC5D_ENST00000392789.2_Missense_Mutation_p.S226L	p.S226L	NM_006918.4	NP_008849.2					5	1051	+								O00119|Q6GTM5|Q9UK15	Missense_Mutation	SNP	ENST00000392789.2	37	c.677C>T	CCDS8435.1	.	.	.	.	.	.	.	.	.	.	C	34	5.308534	0.95629	.	.	ENSG00000109929	ENST00000264027;ENST00000392789	D;D	0.84442	-1.85;-1.85	6.02	6.02	0.97574	Fatty acid hydroxylase (1);	0.235555	0.44285	D	0.000474	D	0.92612	0.7653	M	0.86651	2.83	0.58432	D	0.999992	B	0.22746	0.074	P	0.45794	0.493	D	0.90518	0.4486	10	0.87932	D	0	-21.5587	19.3122	0.94192	0.0:1.0:0.0:0.0	.	226	O75845	SC5D_HUMAN	L	226	ENSP00000264027:S226L;ENSP00000376539:S226L	ENSP00000264027:S226L	S	+	2	0	SC5DL	120683208	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.786000	0.85741	2.865000	0.98341	0.655000	0.94253	TCA		0.373	SC5D-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387702.1	NM_001024956		8	331	0	0	0	1	0	8	331				
TIPIN	54962	broad.mit.edu	37	15	66641437	66641437	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:66641437C>G	ENST00000261881.4	-	6	521	c.436G>C	c.(436-438)Gat>Cat	p.D146H	SCARNA14_ENST00000516903.1_RNA|Y_RNA_ENST00000411339.1_RNA|TIPIN_ENST00000367709.4_Missense_Mutation_p.D45H	NM_017858.2	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	146					cell cycle phase transition (GO:0044770)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|regulation of nuclear cell cycle DNA replication (GO:0033262)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						ATAGGGAGATCAAGTCGAATT	0.294																																						ENST00000261881.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						c.(436-438)Gat>Cat		TIMELESS interacting protein							62.0	65.0	64.0					15																	66641437		2201	4299	6500	SO:0001583	missense	54962				cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding	g.chr15:66641437C>G	BK001386	CCDS10215.1	15q22.31	2012-03-02	2006-08-08		ENSG00000075131	ENSG00000075131			30750	protein-coding gene	gene with protein product	"""CSM3 homolog (S. cerevisiae)"""	610716				12875843, 17102137	Standard	NM_017858		Approved	FLJ20516	uc002apr.2	Q9BVW5	OTTHUMG00000133188	ENST00000261881.4:c.436G>C	15.37:g.66641437C>G	ENSP00000261881:p.Asp146His					TIPIN_ENST00000367709.4_Missense_Mutation_p.D45H	p.D146H	NM_017858.2	NP_060328.2	Q9BVW5	TIPIN_HUMAN			6	521	-			146					B2CW64|Q9NWZ6	Missense_Mutation	SNP	ENST00000261881.4	37	c.436G>C	CCDS10215.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209300	0.58343	.	.	ENSG00000075131	ENST00000367709;ENST00000261881	T;T	0.47177	0.85;0.85	5.11	5.11	0.69529	Replication fork protection component Swi3 (2);	0.000000	0.85682	D	0.000000	T	0.45975	0.1369	L	0.37561	1.115	0.80722	D	1	B	0.33477	0.413	B	0.38616	0.277	T	0.50303	-0.8844	10	0.72032	D	0.01	-36.7419	17.4806	0.87672	0.0:1.0:0.0:0.0	.	146	Q9BVW5	TIPIN_HUMAN	H	45;146	ENSP00000356682:D45H;ENSP00000261881:D146H	ENSP00000261881:D146H	D	-	1	0	TIPIN	64428491	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.760000	0.74939	2.539000	0.85634	0.555000	0.69702	GAT		0.294	TIPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256897.2	NM_017858		3	14	0	0	0	1	0	3	14				
SASH1	23328	broad.mit.edu	37	6	148854029	148854029	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:148854029C>T	ENST00000367467.3	+	14	2136	c.1661C>T	c.(1660-1662)cCg>cTg	p.P554L		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	554					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TACCGAGGCCCGTTCTGCGGG	0.592																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1660-1662)cCg>cTg		SAM and SH3 domain containing 1							128.0	123.0	125.0					6																	148854029		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148854029C>T	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1661C>T	6.37:g.148854029C>T	ENSP00000356437:p.Pro554Leu						p.P554L	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	14	2136	+		Ovarian(120;0.0169)	554					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.1661C>T	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624530	0.87560	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.53640	0.61	4.86	4.86	0.63082	Src homology-3 domain (1);	0.051845	0.85682	D	0.000000	T	0.65852	0.2731	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70673	-0.4807	10	0.87932	D	0	-23.3941	18.2189	0.89895	0.0:1.0:0.0:0.0	.	535;554	Q6P4R9;O94885	.;SASH1_HUMAN	L	554;315	ENSP00000356437:P554L	ENSP00000356437:P554L	P	+	2	0	SASH1	148895722	1.000000	0.71417	0.997000	0.53966	0.516000	0.34256	7.278000	0.78587	2.537000	0.85549	0.655000	0.94253	CCG		0.592	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		4	202	0	0	0	1	0	4	202				
MYCBP2	23077	broad.mit.edu	37	13	77798620	77798620	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:77798620G>T	ENST00000544440.2	-	20	2808	c.2791C>A	c.(2791-2793)Cat>Aat	p.H931N	MYCBP2_ENST00000357337.6_Missense_Mutation_p.H931N|MYCBP2_ENST00000407578.2_Missense_Mutation_p.H969N|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGCTGCCCATGCTGCCCATAA	0.348																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(2905-2907)Cat>Aat		MYC binding protein 2, E3 ubiquitin protein ligase							118.0	112.0	114.0					13																	77798620		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77798620G>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.2791C>A	13.37:g.77798620G>T	ENSP00000444596:p.His931Asn					MYCBP2_ENST00000357337.6_Missense_Mutation_p.H931N|MYCBP2_ENST00000544440.2_Missense_Mutation_p.H931N|MYCBP2_ENST00000360084.5_5'UTR	p.H969N	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	20	3171	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	931						Missense_Mutation	SNP	ENST00000544440.2	37	c.2905C>A		.	.	.	.	.	.	.	.	.	.	G	25.0	4.589402	0.86851	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	D;D;D	0.84730	-1.89;-1.89;-1.89	5.61	5.61	0.85477	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.88716	0.6512	L	0.31664	0.95	0.80722	D	1	P	0.49559	0.925	D	0.67900	0.954	D	0.89201	0.3557	10	0.59425	D	0.04	.	19.6419	0.95762	0.0:0.0:1.0:0.0	.	931	O75592	MYCB2_HUMAN	N	931;969;931	ENSP00000349892:H931N;ENSP00000384288:H969N;ENSP00000444596:H931N	ENSP00000349892:H931N	H	-	1	0	MYCBP2	76696621	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.474000	0.97718	2.640000	0.89533	0.655000	0.94253	CAT		0.348	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		43	110	1	0	9.0599e-49	1	1.08125e-48	43	110				
OPN4	94233	broad.mit.edu	37	10	88421113	88421113	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:88421113C>T	ENST00000241891.5	+	7	1208	c.1041C>T	c.(1039-1041)ccC>ccT	p.P347P	OPN4_ENST00000372071.2_Silent_p.P358P	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	347					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						TCCACAACCCCATCATTTACG	0.612																																						ENST00000372071.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						c.(1072-1074)ccC>ccT		opsin 4							258.0	183.0	208.0					10																	88421113		2203	4300	6503	SO:0001819	synonymous_variant	94233				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	g.chr10:88421113C>T	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"""GPCR / Class A : Opsin receptors"""	14449	protein-coding gene	gene with protein product	"""melanopsin"""	606665	"""opsin 4 (melanopsin)"""			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.1041C>T	10.37:g.88421113C>T						OPN4_ENST00000241891.5_Silent_p.P347P	p.P358P	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN			8	1301	+			347					B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Silent	SNP	ENST00000241891.5	37	c.1074C>T	CCDS7376.1																																																																																				0.612	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		64	128	0	0	0	1	0	64	128				
SNW1	22938	broad.mit.edu	37	14	78184631	78184631	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:78184631T>A	ENST00000261531.7	-	14	1475		c.e14-2		SNW1_ENST00000554775.1_Splice_Site|SLIRP_ENST00000557623.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.L497F|SLIRP_ENST00000557431.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1						cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GGAACAAATCTAAGGAAAAGG	0.428																																						ENST00000555761.1																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1489-1491)ttA>ttT		SNW domain containing 1							125.0	133.0	130.0					14																	78184631		2203	4300	6503	SO:0001630	splice_region_variant	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78184631T>A	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.1413-2A>T	14.37:g.78184631T>A						SLIRP_ENST00000557623.1_Intron|SNW1_ENST00000554775.1_Splice_Site|SNW1_ENST00000261531.7_Splice_Site|SLIRP_ENST00000557431.1_Intron	p.L497F			Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	13	1519	-			0					A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	37	c.1491A>T	CCDS9867.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.94|17.94	3.512282|3.512282	0.64522|0.64522	.|.	.|.	ENSG00000100603|ENSG00000100603	ENST00000261531;ENST00000554775|ENST00000555761	.|.	.|.	.|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|.	.|.	.|.	.|.	.|T	.|0.41419	.|0.1158	.|.	.|.	.|.	0.30353|0.30353	N|N	0.784591|0.784591	.|B	.|0.31351	.|0.32	.|B	.|0.34991	.|0.193	.|T	.|0.40572	.|-0.9556	.|6	.|.	.|.	.|.	.|.	15.6694|15.6694	0.77262|0.77262	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|497	.|G3V3A4	.|.	.|F	-1|497	.|.	.|.	.|L	-|-	.|3	.|2	SNW1|SNW1	77254384|77254384	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.951000|0.951000	0.60555|0.60555	7.420000|7.420000	0.80191|0.80191	2.173000|2.173000	0.68751|0.68751	0.377000|0.377000	0.23210|0.23210	.|TTA		0.428	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245	Intron	5	223	0	0	0	1	0	5	223				
PIDD1	55367	broad.mit.edu	37	11	804239	804239	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:804239C>T	ENST00000347755.5	-	2	291	c.150G>A	c.(148-150)ctG>ctA	p.L50L	PIDD_ENST00000534649.1_5'UTR|PIDD_ENST00000411829.2_Silent_p.L50L	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					ACAGGTGCAGCAGCTGCTGGC	0.657																																						ENST00000347755.5																			0											c.(148-150)ctG>ctA		p53-induced death domain protein							22.0	24.0	24.0					11																	804239		2199	4294	6493	SO:0001819	synonymous_variant	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:804239C>T																												ENST00000347755.5:c.150G>A	11.37:g.804239C>T						PIDD_ENST00000534649.1_5'UTR|PIDD_ENST00000411829.2_Silent_p.L50L	p.L50L	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN			2	291	-			50						Silent	SNP	ENST00000347755.5	37	c.150G>A	CCDS7716.1																																																																																				0.657	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257103.1			3	0	0	0	0	1	0	3	0				
TRIM33	51592	broad.mit.edu	37	1	115007012	115007012	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:115007012T>A	ENST00000358465.2	-	2	610		c.e2-2		TRIM33_ENST00000369543.2_Splice_Site|TRIM33_ENST00000450349.2_5'Flank	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33						gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTACACCAACTACAACATAAA	0.353			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.e2-2		tripartite motif containing 33							82.0	80.0	81.0					1																	115007012		2203	4300	6503	SO:0001630	splice_region_variant	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:115007012T>A	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.527-2A>T	1.37:g.115007012T>A						TRIM33_ENST00000369543.2_Splice_Site		NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	610	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)						O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Splice_Site	SNP	ENST00000358465.2	37		CCDS872.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.336493	0.81801	.	.	ENSG00000197323	ENST00000358465;ENST00000369543	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8211	0.78644	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRIM33	114808535	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.838000	0.69388	2.216000	0.71823	0.533000	0.62120	.		0.353	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906	Intron	6	135	0	0	0	1	0	6	135				
TCHHL1	126637	broad.mit.edu	37	1	152058043	152058043	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:152058043A>T	ENST00000368806.1	-	3	2179	c.2115T>A	c.(2113-2115)agT>agA	p.S705R		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	705							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTTCTTTGCTACTTGGGCCTT	0.458																																						ENST00000368806.1																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.(2113-2115)agT>agA		trichohyalin-like 1							182.0	183.0	183.0					1																	152058043		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152058043A>T		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.2115T>A	1.37:g.152058043A>T	ENSP00000357796:p.Ser705Arg						p.S705R	NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	2179	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		705					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.2115T>A	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	10.04	1.241291	0.22711	.	.	ENSG00000182898	ENST00000368806	T	0.25414	1.8	4.76	-7.03	0.01584	.	0.775494	0.10871	N	0.624973	T	0.04679	0.0127	L	0.50333	1.59	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.37911	-0.9685	10	0.21540	T	0.41	2.375	1.3434	0.02159	0.1736:0.3804:0.1902:0.2558	.	705	Q5QJ38	TCHL1_HUMAN	R	705	ENSP00000357796:S705R	ENSP00000357796:S705R	S	-	3	2	TCHHL1	150324667	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.092000	0.03366	-0.798000	0.04444	-0.274000	0.10170	AGT		0.458	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		11	381	0	0	0	1	0	11	381				
CTBP2	1488	broad.mit.edu	37	10	126682552	126682552	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:126682552C>T	ENST00000337195.5	-	8	1182	c.783G>A	c.(781-783)atG>atA	p.M261I	CTBP2_ENST00000531469.1_Missense_Mutation_p.M261I|CTBP2_ENST00000411419.2_Missense_Mutation_p.M261I|CTBP2_ENST00000334808.6_Missense_Mutation_p.M329I|CTBP2_ENST00000309035.6_Missense_Mutation_p.M801I|CTBP2_ENST00000494626.2_Missense_Mutation_p.M261I	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	261					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTCCCTGCCTCATCTGTGGAA	0.547																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2401-2403)atG>atA		C-terminal binding protein 2							69.0	72.0	71.0					10																	126682552		2201	4300	6501	SO:0001583	missense	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126682552C>T	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.783G>A	10.37:g.126682552C>T	ENSP00000338615:p.Met261Ile					CTBP2_ENST00000531469.1_Missense_Mutation_p.M261I|CTBP2_ENST00000337195.5_Missense_Mutation_p.M261I|CTBP2_ENST00000334808.6_Missense_Mutation_p.M329I|CTBP2_ENST00000494626.2_Missense_Mutation_p.M261I|CTBP2_ENST00000411419.2_Missense_Mutation_p.M261I	p.M801I	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	6	2533	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	261					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.2403G>A	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200853	0.94997	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	4.93	4.93	0.64822	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (2);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.90793	0.7109	M	0.80847	2.515	0.58432	D	0.999999	P;P;P	0.51449	0.945;0.926;0.89	P;P;P	0.61800	0.841;0.894;0.732	D	0.92237	0.5797	10	0.87932	D	0	.	18.1466	0.89659	0.0:1.0:0.0:0.0	.	261;801;329	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	I	261;801;329;261;261;261	ENSP00000338615:M261I;ENSP00000311825:M801I;ENSP00000357816:M329I;ENSP00000434630:M261I;ENSP00000436285:M261I;ENSP00000410474:M261I	ENSP00000311825:M801I	M	-	3	0	CTBP2	126672542	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.479000	0.81095	2.276000	0.75962	0.561000	0.74099	ATG		0.547	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		35	141	0	0	0	1	0	35	141				
SLC9A9	285195	broad.mit.edu	37	3	142985628	142985628	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:142985628C>A	ENST00000316549.6	-	16	2062	c.1854G>T	c.(1852-1854)aaG>aaT	p.K618N		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	618					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.K618K(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						AAATGTTTTCCTTGCCTGGCG	0.502																																						ENST00000316549.6																			1	Substitution - coding silent(1)	p.K618K(1)	skin(1)	breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						c.(1852-1854)aaG>aaT		solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9							152.0	141.0	144.0					3																	142985628		2203	4300	6503	SO:0001583	missense	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:142985628C>A	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1854G>T	3.37:g.142985628C>A	ENSP00000320246:p.Lys618Asn						p.K618N	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN			16	2062	-			618					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	c.1854G>T	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810172	0.50421	.	.	ENSG00000181804	ENST00000316549	T	0.57107	0.42	5.69	1.9	0.25705	.	0.134405	0.51477	D	0.000089	T	0.50051	0.1593	L	0.57536	1.79	0.38561	D	0.9497	P	0.48162	0.906	P	0.46585	0.521	T	0.49744	-0.8907	10	0.36615	T	0.2	.	9.4857	0.38928	0.0:0.5947:0.0:0.4053	.	618	Q8IVB4	SL9A9_HUMAN	N	618	ENSP00000320246:K618N	ENSP00000320246:K618N	K	-	3	2	SLC9A9	144468318	0.821000	0.29204	0.999000	0.59377	0.811000	0.45836	-0.252000	0.08806	0.350000	0.24002	-0.157000	0.13467	AAG		0.502	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		21	183	1	0	6.44725e-10	1	7.19877e-10	21	183				
MTDH	92140	broad.mit.edu	37	8	98731381	98731381	+	Silent	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:98731381T>C	ENST00000336273.3	+	10	1813	c.1485T>C	c.(1483-1485)acT>acC	p.T495T	MTDH_ENST00000519934.1_Silent_p.T439T	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	495					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			CCATAAGCACTAGTGATCCAG	0.413																																						ENST00000336273.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1483-1485)acT>acC		metadherin							84.0	89.0	87.0					8																	98731381		2203	4300	6503	SO:0001819	synonymous_variant	92140				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	g.chr8:98731381T>C	AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1485T>C	8.37:g.98731381T>C						MTDH_ENST00000519934.1_Silent_p.T439T	p.T495T	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.178)		10	1813	+	Breast(36;2.56e-06)		495					Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Silent	SNP	ENST00000336273.3	37	c.1485T>C	CCDS6274.1																																																																																				0.413	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2			22	30	0	0	0	1	0	22	30				
MAP3K9	4293	broad.mit.edu	37	14	71215544	71215544	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:71215544A>T	ENST00000554752.2	-	5	1326		c.e5+1		MAP3K9_ENST00000553414.1_Splice_Site|MAP3K9_ENST00000381250.4_Splice_Site|MAP3K9_ENST00000555993.2_Splice_Site|MAP3K9_ENST00000554146.1_Splice_Site	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9						activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		tgttttgtttaccttttcttt	0.438																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.e5+1		mitogen-activated protein kinase kinase kinase 9							70.0	67.0	68.0					14																	71215544		2203	4300	6503	SO:0001630	splice_region_variant	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71215544A>T	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1326+1T>A	14.37:g.71215544A>T						MAP3K9_ENST00000554146.1_Splice_Site|MAP3K9_ENST00000381250.4_Splice_Site|MAP3K9_ENST00000555993.2_Splice_Site|MAP3K9_ENST00000553414.1_Splice_Site				P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	5	1326	-								A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Splice_Site	SNP	ENST00000554752.2	37																																																																																						0.438	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2		Intron	5	146	0	0	0	1	0	5	146				
PKHD1	5314	broad.mit.edu	37	6	51637542	51637542	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:51637542G>A	ENST00000371117.3	-	55	8875	c.8600C>T	c.(8599-8601)tCc>tTc	p.S2867F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S2867F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2867	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGTGTCCAGGAGTTCTTAGG	0.398																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(8599-8601)tCc>tTc		polycystic kidney and hepatic disease 1 (autosomal recessive)							134.0	135.0	135.0					6																	51637542		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51637542G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8600C>T	6.37:g.51637542G>A	ENSP00000360158:p.Ser2867Phe					PKHD1_ENST00000340994.4_Missense_Mutation_p.S2867F	p.S2867F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			55	8875	-	Lung NSC(77;0.0605)		2867			G8 2.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.8600C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218140	0.58560	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.90900	-2.75;-2.75	5.79	4.92	0.64577	G8 domain (2);	0.235877	0.37857	N	0.001907	D	0.89972	0.6870	M	0.63428	1.95	0.33873	D	0.63519	D;D;D	0.71674	0.998;0.996;0.994	D;P;D	0.70487	0.969;0.759;0.925	D	0.87225	0.2256	10	0.12103	T	0.63	.	12.1178	0.53875	0.0791:0.0:0.9209:0.0	.	2867;2867;2867	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	F	2867	ENSP00000360158:S2867F;ENSP00000341097:S2867F	ENSP00000341097:S2867F	S	-	2	0	PKHD1	51745501	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	4.463000	0.60128	1.445000	0.47624	0.591000	0.81541	TCC		0.398	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		60	77	0	0	0	1	0	60	77				
MYH6	4624	broad.mit.edu	37	14	23871982	23871982	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:23871982T>C	ENST00000356287.3	-	10	955	c.926A>G	c.(925-927)tAc>tGc	p.Y309C	MYH6_ENST00000405093.3_Missense_Mutation_p.Y309C			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	309	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGCGTAGTCGTAGGGATTGTT	0.642																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(925-927)tAc>tGc		myosin, heavy chain 6, cardiac muscle, alpha							60.0	45.0	50.0					14																	23871982		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23871982T>C	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.926A>G	14.37:g.23871982T>C	ENSP00000348634:p.Tyr309Cys					MYH6_ENST00000356287.3_Missense_Mutation_p.Y309C	p.Y309C	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	11	996	-	all_cancers(95;2.54e-05)		309			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.926A>G	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	17.62	3.436038	0.62955	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.71698	-0.59;-0.59	4.31	4.31	0.51392	Myosin head, motor domain (2);	.	.	.	.	D	0.85894	0.5803	M	0.90705	3.14	0.80722	D	1	P;P	0.39576	0.679;0.679	P;P	0.61275	0.886;0.886	D	0.87940	0.2716	9	0.72032	D	0.01	.	12.5882	0.56428	0.0:0.0:0.0:1.0	.	309;309	D9YZU2;P13533	.;MYH6_HUMAN	C	309	ENSP00000386041:Y309C;ENSP00000348634:Y309C	ENSP00000348634:Y309C	Y	-	2	0	MYH6	22941822	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	6.011000	0.70760	1.728000	0.51552	0.402000	0.26972	TAC		0.642	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			3	69	0	0	0	1	0	3	69				
COG1	9382	broad.mit.edu	37	17	71196010	71196010	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:71196010G>T	ENST00000299886.4	+	5	1000	c.920G>T	c.(919-921)gGc>gTc	p.G307V		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	307					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			TTAGGAAAGGGCACTGGTGTC	0.522																																						ENST00000299886.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(919-921)gGc>gTc		component of oligomeric golgi complex 1							82.0	72.0	75.0					17																	71196010		2203	4300	6503	SO:0001583	missense	9382				Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	g.chr17:71196010G>T		CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.920G>T	17.37:g.71196010G>T	ENSP00000299886:p.Gly307Val						p.G307V	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		5	1000	+			307					Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	c.920G>T	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521577	0.27211	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.24350	1.86;1.87	5.27	4.31	0.51392	.	0.313882	0.38663	N	0.001619	T	0.36963	0.0986	M	0.72479	2.2	0.80722	D	1	P;P;P	0.51791	0.947;0.948;0.947	P;P;P	0.51229	0.663;0.572;0.663	T	0.18967	-1.0320	10	0.19147	T	0.46	-20.942	13.6662	0.62396	0.0733:0.0:0.9267:0.0	.	307;307;307	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	V	307	ENSP00000400111:G307V;ENSP00000299886:G307V	ENSP00000299886:G307V	G	+	2	0	COG1	68707605	1.000000	0.71417	0.574000	0.28523	0.833000	0.47200	3.163000	0.50763	1.453000	0.47775	0.655000	0.94253	GGC		0.522	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			24	198	1	0	1.99505e-19	1	2.31274e-19	24	198				
NBPF14	25832	broad.mit.edu	37	1	148012533	148012533	+	Missense_Mutation	SNP	T	T	G	rs144977899		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:148012533T>G	ENST00000369219.1	-	12	1442	c.1426A>C	c.(1426-1428)Aag>Cag	p.K476Q				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E481D(1)|p.K476Q(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CCAACATGCTTTTCCTCCAAT	0.448																																						ENST00000369219.1																			2	Substitution - Missense(2)	p.E481D(1)|p.K476Q(1)	lung(2)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(1426-1428)Aag>Cag		neuroblastoma breakpoint family, member 14		T	GLN/LYS	149,1589		11,127,731	3.0	3.0	3.0		1426		0.0	1	dbSNP_134	3	199,3727		1,197,1765	no	missense	NBPF14	NM_015383.1	53	12,324,2496	GG,GT,TT		5.0688,8.5731,6.1441	benign	476/922	148012533	348,5316	869	1963	2832	SO:0001583	missense	25832					cytoplasm		g.chr1:148012533T>G	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1426A>C	1.37:g.148012533T>G	ENSP00000358221:p.Lys476Gln						p.K476Q			Q5TI25	NBPFE_HUMAN			12	1442	-	all_hematologic(923;0.032)		476			NBPF 5.		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37	c.1426A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	0.001|0.001	-3.636353|-3.636353	0.00007|0.00007	0.085731|0.085731	0.050688|0.050688	ENSG00000122497|ENSG00000122497	ENST00000310701;ENST00000392972;ENST00000426874|ENST00000369219;ENST00000434489	.|T	.|0.05199	.|3.48	.|.	.|.	.|.	.|DUF1220 (2);	.|.	.|.	.|.	.|.	T|T	0.00468|0.00468	0.0015|0.0015	N|N	0.00104|0.00104	-2.125|-2.125	0.09310|0.09310	N|N	1|1	.|B;B;P	.|0.43431	.|0.001;0.005;0.807	.|B;B;P	.|0.53518	.|0.01;0.023;0.728	T|T	0.31138|0.31138	-0.9954|-0.9954	3|7	.|0.02654	.|T	.|1	.|.	.|.	.|.	.|.	.|.	.|143;590;476	.|E7EWM5;Q8IX74;Q5TI25	.|.;.;NBPFE_HUMAN	N|Q	481;486;486|476;141	.|ENSP00000358221:K476Q	.|ENSP00000358221:K476Q	K|K	-|-	3|1	2|0	NBPF14|NBPF14	146479157|146479157	0.953000|0.953000	0.32496|0.32496	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	-1.318000|-1.318000	0.02705|0.02705	-1.050000|-1.050000	0.03230|0.03230	-1.115000|-1.115000	0.02055|0.02055	AAA|AAG		0.448	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		21	181	0	0	0	1	0	21	181				
CD2AP	23607	broad.mit.edu	37	6	47573899	47573899	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:47573899A>T	ENST00000359314.5	+	14	1873		c.e14-1			NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein						mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTTATTTTCTAGATGTTGTAA	0.313																																						ENST00000359314.5																			0				kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20						c.e14-1		CD2-associated protein							45.0	46.0	46.0					6																	47573899		2203	4300	6503	SO:0001630	splice_region_variant	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47573899A>T	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.1418-1A>T	6.37:g.47573899A>T								NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		14	1873	+								A6NL34|Q5VYA3|Q9UG97	Splice_Site	SNP	ENST00000359314.5	37		CCDS34472.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.217056	0.79352	.	.	ENSG00000198087	ENST00000359314	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9027	0.79392	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD2AP	47681858	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.761000	0.74945	2.146000	0.66826	0.533000	0.62120	.		0.313	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2		Intron	8	204	0	0	0	1	0	8	204				
ATP8A1	10396	broad.mit.edu	37	4	42618092	42618092	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:42618092G>C	ENST00000381668.5	-	5	598	c.367C>G	c.(367-369)Cga>Gga	p.R123G	ATP8A1_ENST00000264449.10_Missense_Mutation_p.R123G	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	123					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GCTTTATGTCGTTTCTAAAGT	0.299																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(367-369)Cga>Gga		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						171.0	163.0	166.0					4																	42618092		2200	4300	6500	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42618092G>C	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.367C>G	4.37:g.42618092G>C	ENSP00000371084:p.Arg123Gly					ATP8A1_ENST00000264449.10_Missense_Mutation_p.R123G	p.R123G	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			5	598	-			123					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.367C>G	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052996	0.55218	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	D;D	0.85629	-2.01;-2.01	5.96	5.96	0.96718	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.96137	0.8741	H	0.99800	4.79	0.80722	D	1	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.97110	0.982;1.0;1.0	D	0.97105	0.9800	10	0.72032	D	0.01	.	13.3173	0.60415	0.0:0.0:0.7407:0.2593	.	123;123;123	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	G	123	ENSP00000371084:R123G;ENSP00000264449:R123G	ENSP00000264449:R123G	R	-	1	2	ATP8A1	42312849	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	4.497000	0.60367	2.831000	0.97527	0.650000	0.86243	CGA		0.299	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		13	38	0	0	0	1	0	13	38				
OR8B12	219858	broad.mit.edu	37	11	124412743	124412743	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:124412743C>T	ENST00000306842.2	-	1	832	c.808G>A	c.(808-810)Ggg>Agg	p.G270R		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GACACTTTCCCTTGCTCGAGG	0.438																																						ENST00000306842.2																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(808-810)Ggg>Agg		olfactory receptor, family 8, subfamily B, member 12							89.0	85.0	86.0					11																	124412743		2201	4299	6500	SO:0001583	missense	219858				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124412743C>T		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.808G>A	11.37:g.124412743C>T	ENSP00000307159:p.Gly270Arg						p.G270R	NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)	1	832	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	270					B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	37	c.808G>A	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492373	0.64074	.	.	ENSG00000170953	ENST00000306842	T	0.00076	8.76	3.89	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000026	T	0.00210	0.0006	L	0.41710	1.295	0.36363	D	0.860851	P	0.46512	0.879	P	0.47827	0.558	D	0.91470	0.5196	10	0.59425	D	0.04	.	15.8263	0.78709	0.0:1.0:0.0:0.0	.	270	Q8NGG6	OR8BC_HUMAN	R	270	ENSP00000307159:G270R	ENSP00000307159:G270R	G	-	1	0	OR8B12	123917953	0.004000	0.15560	0.833000	0.33012	0.792000	0.44763	2.042000	0.41222	2.457000	0.83068	0.650000	0.86243	GGG		0.438	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			4	95	0	0	0	1	0	4	95				
LAMA5	3911	broad.mit.edu	37	20	60937539	60937539	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:60937539C>T	ENST00000252999.3	-	2	433	c.367G>A	c.(367-369)Ggc>Agc	p.G123S	LAMA5_ENST00000370677.3_Missense_Mutation_p.G123S|LAMA5_ENST00000370692.3_Missense_Mutation_p.G123S	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	123	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CGCTCCGTGCCATCGATGGCA	0.637																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(367-369)Ggc>Agc		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						100.0	80.0	87.0					20																	60937539		2197	4294	6491	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60937539C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.367G>A	20.37:g.60937539C>T	ENSP00000252999:p.Gly123Ser					LAMA5_ENST00000370692.3_Missense_Mutation_p.G123S|LAMA5_ENST00000370677.3_Missense_Mutation_p.G123S	p.G123S	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		2	433	-	Breast(26;1.57e-08)		123			Laminin N-terminal.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.367G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714832	0.89112	.	.	ENSG00000130702	ENST00000252999;ENST00000370692;ENST00000370677	D;D;D	0.84800	-1.9;-1.9;-1.9	4.81	4.81	0.61882	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.92404	0.7589	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93545	0.6881	10	0.87932	D	0	.	17.8737	0.88818	0.0:1.0:0.0:0.0	.	123	O15230	LAMA5_HUMAN	S	123	ENSP00000252999:G123S;ENSP00000359726:G123S;ENSP00000359711:G123S	ENSP00000252999:G123S	G	-	1	0	LAMA5	60370934	1.000000	0.71417	0.953000	0.39169	0.196000	0.23810	7.604000	0.82830	2.229000	0.72834	0.561000	0.74099	GGC		0.637	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		3	11	0	0	0	1	0	3	11				
NRDE2	55051	broad.mit.edu	37	14	90759177	90759177	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:90759177A>T	ENST00000354366.3	-	9	1938	c.1706T>A	c.(1705-1707)aTa>aAa	p.I569K	NRDE2_ENST00000357904.3_Missense_Mutation_p.I338K	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	569																	CTTATCTTTTATTTCCTGGTC	0.512																																						ENST00000354366.3																			0											c.(1705-1707)aTa>aAa		NRDE-2, necessary for RNA interference, domain containing							176.0	163.0	167.0					14																	90759177		2203	4300	6503	SO:0001583	missense	55051							g.chr14:90759177A>T	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.1706T>A	14.37:g.90759177A>T	ENSP00000346335:p.Ile569Lys					NRDE2_ENST00000357904.3_Missense_Mutation_p.I338K	p.I569K	NM_017970.3	NP_060440.2					9	1938	-								B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	c.1706T>A	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.695027	0.48202	.	.	ENSG00000119720	ENST00000354366;ENST00000357904;ENST00000554464	T;T	0.33216	1.42;1.42	5.46	5.46	0.80206	.	0.179711	0.47455	D	0.000226	T	0.53417	0.1795	M	0.81497	2.545	0.80722	D	1	D	0.61697	0.99	P	0.58660	0.843	T	0.57763	-0.7755	10	0.48119	T	0.1	-14.3295	15.5434	0.76074	1.0:0.0:0.0:0.0	.	569	Q9H7Z3	CN102_HUMAN	K	569;338;148	ENSP00000346335:I569K;ENSP00000350579:I338K	ENSP00000346335:I569K	I	-	2	0	C14orf102	89828930	1.000000	0.71417	0.111000	0.21465	0.290000	0.27261	6.994000	0.76251	2.064000	0.61679	0.533000	0.62120	ATA		0.512	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		5	245	0	0	0	1	0	5	245				
APIP	51074	broad.mit.edu	37	11	34909879	34909879	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:34909879A>T	ENST00000395787.3	-	5	636	c.422T>A	c.(421-423)aTa>aAa	p.I141K	APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Missense_Mutation_p.I158K	NM_015957.2	NP_057041.2			APAF1 interacting protein											kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			TATTCCTTTTATCATCTCTTG	0.353																																						ENST00000395787.3																			0				kidney(2)|lung(1)|skin(1)	4						c.(421-423)aTa>aAa		APAF1 interacting protein							75.0	75.0	75.0					11																	34909879		2202	4298	6500	SO:0001583	missense	51074				apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity	g.chr11:34909879A>T	AF132963	CCDS7895.1	11p13	2014-05-12				ENSG00000149089	4.2.1.109		17581	protein-coding gene	gene with protein product	"""methylthioribulose-1-phosphate dehydratase"""	612491				10810093, 15262985, 24367089	Standard	NM_015957		Approved	CGI-29, Mmrp19, APIP2	uc001mvs.2	Q96GX9		ENST00000395787.3:c.422T>A	11.37:g.34909879A>T	ENSP00000379133:p.Ile141Lys					APIP_ENST00000278359.5_Missense_Mutation_p.I158K|APIP_ENST00000527830.1_5'UTR	p.I141K	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	STAD - Stomach adenocarcinoma(6;0.000425)		5	636	-	all_epithelial(35;0.161)	all_hematologic(20;0.107)	141						Missense_Mutation	SNP	ENST00000395787.3	37	c.422T>A	CCDS7895.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.781699	0.90282	.	.	ENSG00000149089	ENST00000278359;ENST00000395787	T;T	0.23950	1.88;1.88	5.7	5.7	0.88788	Class II aldolase/adducin, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.61110	0.2321	M	0.92833	3.35	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.75020	0.985;0.969	T	0.71919	-0.4447	10	0.87932	D	0	-31.2675	15.9707	0.80013	1.0:0.0:0.0:0.0	.	158;141	B4DY17;Q96GX9	.;MTNB_HUMAN	K	158;141	ENSP00000278359:I158K;ENSP00000379133:I141K	ENSP00000278359:I158K	I	-	2	0	APIP	34866455	1.000000	0.71417	0.991000	0.47740	0.990000	0.78478	8.896000	0.92521	2.177000	0.69029	0.459000	0.35465	ATA		0.353	APIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389864.1	NM_015957		5	128	0	0	0	1	0	5	128				
RHOV	171177	broad.mit.edu	37	15	41165422	41165422	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:41165422C>A	ENST00000220507.4	-	3	694	c.545G>T	c.(544-546)tGc>tTc	p.C182F	AC025166.1_ENST00000582049.1_RNA	NM_133639.3	NP_598378.3			ras homolog family member V											central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CTCAAGGTAGCAGCAGGCTCG	0.577																																					Pancreas(13;103 483 3593 12123 44457)	ENST00000220507.4																			0				central_nervous_system(1)|large_intestine(1)	2						c.(544-546)tGc>tTc		ras homolog family member V							84.0	87.0	86.0					15																	41165422		2203	4300	6503	SO:0001583	missense	171177				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding	g.chr15:41165422C>A	AY059636	CCDS10068.1	15q13.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000104140	ENSG00000104140			18313	protein-coding gene	gene with protein product			"""ras homolog gene family, member V"""	ARHV		11839775	Standard	NM_133639		Approved	Chp, WRCH2	uc001znd.3	Q96L33	OTTHUMG00000130134	ENST00000220507.4:c.545G>T	15.37:g.41165422C>A	ENSP00000220507:p.Cys182Phe						p.C182F	NM_133639.3	NP_598378.3	Q96L33	RHOV_HUMAN		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)	3	694	-		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	182						Missense_Mutation	SNP	ENST00000220507.4	37	c.545G>T	CCDS10068.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138358	0.37728	.	.	ENSG00000104140	ENST00000220507	T	0.76186	-1.0	5.63	5.63	0.86233	Small GTP-binding protein domain (1);	0.259379	0.45867	D	0.000331	T	0.59348	0.2187	N	0.12887	0.27	0.35395	D	0.791054	B	0.22604	0.072	B	0.20384	0.029	T	0.66221	-0.5978	10	0.87932	D	0	-36.0216	14.1878	0.65617	0.0:0.7319:0.2681:0.0	.	182	Q96L33	RHOV_HUMAN	F	182	ENSP00000220507:C182F	ENSP00000220507:C182F	C	-	2	0	RHOV	38952714	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.268000	0.58883	2.671000	0.90904	0.455000	0.32223	TGC		0.577	RHOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252442.1			9	147	1	0	2.27111e-07	1	2.49001e-07	9	147				
HAL	3034	broad.mit.edu	37	12	96387718	96387718	+	Missense_Mutation	SNP	A	A	T	rs150136984	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:96387718A>T	ENST00000261208.3	-	6	838	c.470T>A	c.(469-471)aTa>aAa	p.I157K	HAL_ENST00000538703.1_Missense_Mutation_p.I157K|HAL_ENST00000541929.1_5'UTR|RP11-256L6.3_ENST00000551849.1_RNA	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	157					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TTTCTCTTTTATGATGCTATC	0.338																																					NSCLC(169;943 2815 23563 30031)	ENST00000261208.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34						c.(469-471)aTa>aAa		histidine ammonia-lyase	L-Histidine(DB00117)						88.0	91.0	90.0					12																	96387718		2203	4300	6503	SO:0001583	missense	3034				biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	g.chr12:96387718A>T		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.470T>A	12.37:g.96387718A>T	ENSP00000261208:p.Ile157Lys					HAL_ENST00000541929.1_5'UTR|HAL_ENST00000538703.1_Missense_Mutation_p.I157K	p.I157K	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN			6	838	-			157					B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	c.470T>A	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.675724	0.47781	.	.	ENSG00000084110	ENST00000261208;ENST00000538703;ENST00000552509;ENST00000546579	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.21	5.21	0.72293	L-Aspartase-like (1);L-Aspartase-like, N-terminal (1);	0.305293	0.32287	N	0.006306	D	0.84629	0.5514	M	0.72894	2.215	0.80722	D	1	B;B	0.29955	0.006;0.263	B;P	0.46850	0.019;0.529	D	0.85532	0.1210	10	0.87932	D	0	-0.2843	15.3779	0.74625	1.0:0.0:0.0:0.0	.	157;157	F5GXF2;P42357	.;HUTH_HUMAN	K	157;157;157;67	ENSP00000261208:I157K;ENSP00000440861:I157K;ENSP00000450372:I157K;ENSP00000447543:I67K	ENSP00000261208:I157K	I	-	2	0	HAL	94911849	1.000000	0.71417	0.090000	0.20809	0.111000	0.19643	8.910000	0.92685	2.098000	0.63641	0.459000	0.35465	ATA		0.338	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1			8	196	0	0	0	1	0	8	196				
FCGBP	8857	broad.mit.edu	37	19	40408735	40408735	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:40408735G>A	ENST00000221347.6	-	8	4111	c.4104C>T	c.(4102-4104)taC>taT	p.Y1368Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1368	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACACAAGGTCGTAGGCCACAC	0.587																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(4102-4104)taC>taT		Fc fragment of IgG binding protein							83.0	71.0	75.0					19																	40408735		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40408735G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.4104C>T	19.37:g.40408735G>A							p.Y1368Y	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		8	4111	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		1368			VWFD 3.		O95784	Silent	SNP	ENST00000221347.6	37	c.4104C>T	CCDS12546.1																																																																																				0.587	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		17	198	0	0	0	1	0	17	198				
KRT74	121391	broad.mit.edu	37	12	52966408	52966408	+	Nonsense_Mutation	SNP	C	C	T	rs200761203		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:52966408C>T	ENST00000305620.2	-	2	562	c.515G>A	c.(514-516)tGg>tAg	p.W172*	KRT74_ENST00000549343.1_Nonsense_Mutation_p.W172*	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	172	Coil 1A.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CAGCAGCTCCCACTTGGTTTC	0.557																																						ENST00000549343.1																			0				kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(514-516)tGg>tAg		keratin 74							111.0	101.0	104.0					12																	52966408		2203	4300	6503	SO:0001587	stop_gained	121391					keratin filament	structural molecule activity	g.chr12:52966408C>T	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.515G>A	12.37:g.52966408C>T	ENSP00000307240:p.Trp172*					KRT74_ENST00000305620.2_Nonsense_Mutation_p.W172*	p.W172*			Q7RTS7	K2C74_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.191)	2	553	-			172			Coil 1A.|Rod.		B5MD61|Q86Y45	Nonsense_Mutation	SNP	ENST00000305620.2	37	c.515G>A	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	C	36	5.849807	0.97023	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	.	.	.	4.71	4.71	0.59529	.	0.000000	0.32987	N	0.005401	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5813	0.91172	0.0:1.0:0.0:0.0	.	.	.	.	X	172	.	ENSP00000307240:W172X	W	-	2	0	KRT74	51252675	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.388000	0.44398	2.553000	0.86117	0.650000	0.86243	TGG		0.557	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		3	66	0	0	0	1	0	3	66				
TTF2	8458	broad.mit.edu	37	1	117644000	117644000	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:117644000A>T	ENST00000369466.4	+	23	3388		c.e23-1		TTF2_ENST00000480701.1_Splice_Site	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II						ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TTTGTTTTTTAGATTTGTTTG	0.299																																						ENST00000369466.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.e23-1		transcription termination factor, RNA polymerase II							62.0	74.0	70.0					1																	117644000		2199	4299	6498	SO:0001630	splice_region_variant	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117644000A>T	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.3345-1A>T	1.37:g.117644000A>T						TTF2_ENST00000480701.1_Splice_Site		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	23	3388	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)						A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Splice_Site	SNP	ENST00000369466.4	37		CCDS892.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.210087	0.58343	.	.	ENSG00000116830	ENST00000369466;ENST00000427271	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3131	0.66429	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTF2	117445523	1.000000	0.71417	0.854000	0.33618	0.615000	0.37417	8.778000	0.91785	2.322000	0.78497	0.528000	0.53228	.		0.299	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3		Intron	4	30	0	0	0	1	0	4	30				
PIK3C2A	5286	broad.mit.edu	37	11	17172077	17172077	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:17172077C>A	ENST00000265970.7	-	3	1294	c.1295G>T	c.(1294-1296)gGa>gTa	p.G432V	PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.G52V	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	432	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TAGCTGAAATCCTTCAATGTC	0.403																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1294-1296)gGa>gTa		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						174.0	142.0	153.0					11																	17172077		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17172077C>A	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.1295G>T	11.37:g.17172077C>A	ENSP00000265970:p.Gly432Val					PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.G52V	p.G432V	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			3	1294	-			432					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.1295G>T	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659365	0.67586	.	.	ENSG00000011405	ENST00000265970;ENST00000540361;ENST00000544896	T;T	0.47869	0.83;0.83	6.03	6.03	0.97812	Phosphoinositide 3-kinase, ras-binding (2);	0.221904	0.48286	D	0.000193	T	0.64549	0.2608	M	0.66939	2.045	0.80722	D	1	D;D	0.67145	0.996;0.991	P;P	0.61201	0.885;0.864	T	0.64782	-0.6326	10	0.59425	D	0.04	-17.2667	15.6189	0.76790	0.0:0.933:0.0:0.067	.	432;432	F5H5W9;O00443	.;P3C2A_HUMAN	V	432;52;432	ENSP00000265970:G432V;ENSP00000438687:G52V	ENSP00000265970:G432V	G	-	2	0	PIK3C2A	17128653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.215000	0.51169	2.854000	0.98071	0.655000	0.94253	GGA		0.403	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		13	168	1	0	3.41278e-10	1	3.82232e-10	13	168				
R3HCC1L	27291	broad.mit.edu	37	10	99991267	99991267	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:99991267A>T	ENST00000298999.3	+	6	2088		c.e6-1		R3HCC1L_ENST00000314594.5_Splice_Site|R3HCC1L_ENST00000370584.3_Splice_Site|R3HCC1L_ENST00000370586.2_Splice_Site	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like								nucleotide binding (GO:0000166)										CTTCCTTTCTAGTTATCAGGG	0.378																																						ENST00000314594.5																			0											c.e7-1		R3H domain and coiled-coil containing 1-like							95.0	87.0	90.0					10																	99991267		2203	4300	6503	SO:0001630	splice_region_variant	27291							g.chr10:99991267A>T	AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.1786-1A>T	10.37:g.99991267A>T						R3HCC1L_ENST00000298999.3_Splice_Site|R3HCC1L_ENST00000370586.2_Splice_Site|R3HCC1L_ENST00000370584.3_Splice_Site		NM_001256619.1	NP_001243548.1					7	2130	+								O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Splice_Site	SNP	ENST00000298999.3	37		CCDS31267.1	.	.	.	.	.	.	.	.	.	.	A	18.73	3.685861	0.68157	.	.	ENSG00000166024	ENST00000370584;ENST00000298999;ENST00000370586;ENST00000314594;ENST00000544834	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1559	0.72743	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C10orf28	99981257	1.000000	0.71417	0.997000	0.53966	0.846000	0.48090	4.807000	0.62576	2.214000	0.71695	0.533000	0.62120	.		0.378	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472	Intron	6	197	0	0	0	1	0	6	197				
C1QTNF7	114905	broad.mit.edu	37	4	15437360	15437360	+	5'UTR	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:15437360A>G	ENST00000444304.2	+	0	319				C1QTNF7_ENST00000295297.4_Splice_Site_p.E5G|C1QTNF7_ENST00000429690.1_5'UTR			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7						protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						TCTCTTCCAGAGCCAAAGATG	0.448																																						ENST00000295297.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						c.e2-1		C1q and tumor necrosis factor related protein 7							93.0	88.0	90.0					4																	15437360		2203	4300	6503	SO:0001623	5_prime_UTR_variant	114905					collagen		g.chr4:15437360A>G	AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.-8A>G	4.37:g.15437360A>G						C1QTNF7_ENST00000429690.1_5'UTR|C1QTNF7_ENST00000444304.2_5'UTR	p.E5_splice	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN			2	273	+			0					B2RBT3|J3KPW3	Splice_Site	SNP	ENST00000444304.2	37	c.13_splice	CCDS3414.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.829547	0.71258	.	.	ENSG00000163145	ENST00000397700;ENST00000295297	D;D	0.91464	-2.85;-2.52	5.54	3.05	0.35203	.	.	.	.	.	D	0.87720	0.6248	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.81116	-0.1079	5	.	.	.	.	3.4297	0.07424	0.5381:0.2659:0.0686:0.1274	.	.	.	.	G	5	ENSP00000380812:E5G;ENSP00000295297:E5G	.	E	+	2	0	C1QTNF7	15046458	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.549000	0.45803	0.449000	0.26747	0.533000	0.62120	GAG		0.448	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250891.2			34	67	0	0	0	1	0	34	67				
RBM23	55147	broad.mit.edu	37	14	23374870	23374870	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:23374870T>A	ENST00000359890.3	-	6	597		c.e6-2		RBM23_ENST00000555209.1_Intron|RBM23_ENST00000556984.1_5'Flank|RBM23_ENST00000346528.5_Intron|RBM23_ENST00000399922.2_Splice_Site|RBM23_ENST00000542016.2_Splice_Site	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23						mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TACCTATAACTAAAGAATAGA	0.398																																						ENST00000359890.3																			0				endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10						c.e6-2		RNA binding motif protein 23							62.0	54.0	57.0					14																	23374870		1844	4094	5938	SO:0001630	splice_region_variant	55147				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr14:23374870T>A	AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"""RNA binding motif (RRM) containing"""	20155	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen recep- tors beta"""		"""RNA-binding region (RNP1, RRM) containing 4"""	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.402-2A>T	14.37:g.23374870T>A						RBM23_ENST00000555209.1_Intron|RBM23_ENST00000399922.2_Splice_Site|RBM23_ENST00000346528.5_Intron|RBM23_ENST00000542016.2_Splice_Site		NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN		GBM - Glioblastoma multiforme(265;0.0128)	6	597	-	all_cancers(95;4.69e-05)							D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Splice_Site	SNP	ENST00000359890.3	37		CCDS41921.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.257327	0.39896	.	.	ENSG00000100461	ENST00000359890;ENST00000338980;ENST00000399922	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8912	0.63740	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RBM23	22444710	0.981000	0.34729	0.241000	0.24154	0.005000	0.04900	3.891000	0.56227	2.179000	0.69175	0.533000	0.62120	.		0.398	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413545.3		Intron	4	67	0	0	0	1	0	4	67				
HHIPL1	84439	broad.mit.edu	37	14	100129338	100129338	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:100129338C>T	ENST00000330710.5	+	6	1726	c.1628C>T	c.(1627-1629)tCc>tTc	p.S543F	HHIPL1_ENST00000357223.2_Missense_Mutation_p.S543F	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	543					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)	p.S543F(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				TACATCATCTCCTTCGGGGAG	0.607																																						ENST00000330710.5																			1	Substitution - Missense(1)	p.S543F(1)	lung(1)	breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15						c.(1627-1629)tCc>tTc		HHIP-like 1							102.0	85.0	90.0					14																	100129338		2203	4300	6503	SO:0001583	missense	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100129338C>T	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.1628C>T	14.37:g.100129338C>T	ENSP00000330601:p.Ser543Phe					HHIPL1_ENST00000357223.2_Missense_Mutation_p.S543F	p.S543F	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN			6	1726	+		Melanoma(154;0.128)	543					A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	c.1628C>T	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738599	0.89573	.	.	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.14022	2.54;2.54	4.87	4.87	0.63330	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.52917	0.1764	H	0.96489	3.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.71167	-0.4672	10	0.87932	D	0	.	18.0427	0.89323	0.0:1.0:0.0:0.0	.	543;543	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	F	543	ENSP00000330601:S543F;ENSP00000349757:S543F	ENSP00000330601:S543F	S	+	2	0	HHIPL1	99199091	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	7.776000	0.85560	2.267000	0.75376	0.655000	0.94253	TCC		0.607	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		59	143	0	0	0	1	0	59	143				
STAB2	55576	broad.mit.edu	37	12	104152925	104152925	+	Silent	SNP	G	G	T	rs373100860		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:104152925G>T	ENST00000388887.2	+	65	7326	c.7122G>T	c.(7120-7122)cgG>cgT	p.R2374R	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGTCTGGGCGGGACATCGAGC	0.463																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(7120-7122)cgG>cgT		stabilin 2							151.0	134.0	140.0					12																	104152925		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104152925G>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.7122G>T	12.37:g.104152925G>T						RP11-341G23.4_ENST00000551299.1_RNA	p.R2374R	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			65	7326	+			2374			FAS1 7.			Silent	SNP	ENST00000388887.2	37	c.7122G>T	CCDS31888.1																																																																																				0.463	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			42	637	1	0	6.23363e-37	1	7.34318e-37	42	637				
ZSCAN9	7746	broad.mit.edu	37	6	28200339	28200339	+	Splice_Site	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:28200339G>A	ENST00000252207.5	+	4	716		c.e4-1		ZSCAN9_ENST00000425468.2_Splice_Site|ZSCAN9_ENST00000531979.1_Splice_Site	NM_006299.4	NP_006290.1	O15535	ZSC9_HUMAN	zinc finger and SCAN domain containing 9						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CTTTGTTTCAGATGAAGTAAC	0.408																																						ENST00000425468.2																			0											c.e5-1		zinc finger and SCAN domain containing 9							63.0	60.0	61.0					6																	28200339		2203	4300	6503	SO:0001630	splice_region_variant	7746							g.chr6:28200339G>A	U62392	CCDS4646.1, CCDS56407.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000137185	ENSG00000137185		"""-"", ""Zinc fingers, C2H2-type"""	12984	protein-coding gene	gene with protein product		602246	"""zinc finger protein 193"""	ZNF193			Standard	NM_001199479		Approved	PRD51	uc003nkq.2	O15535	OTTHUMG00000014515	ENST00000252207.5:c.569-1G>A	6.37:g.28200339G>A						ZSCAN9_ENST00000252207.5_Splice_Site|ZSCAN9_ENST00000531979.1_Splice_Site		NM_001199479.1	NP_001186408.1					5	886	+								B4E1W6|E7EVQ2|Q2TTR1	Splice_Site	SNP	ENST00000252207.5	37		CCDS4646.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990901	0.74703	.	.	ENSG00000137185	ENST00000425468;ENST00000252207;ENST00000531979;ENST00000527844	.	.	.	3.65	2.74	0.32292	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0901	0.48110	0.0:0.1902:0.8098:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF193	28308318	0.057000	0.20700	0.883000	0.34634	0.905000	0.53344	0.909000	0.28558	1.068000	0.40764	0.655000	0.94253	.		0.408	ZSCAN9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040183.2	NM_006299	Intron	108	198	0	0	0	1	0	108	198				
ADAM12	8038	broad.mit.edu	37	10	127760169	127760169	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:127760169G>T	ENST00000368679.4	-	12	1518	c.1209C>A	c.(1207-1209)agC>agA	p.S403R	ADAM12_ENST00000467145.1_5'Flank|ADAM12_ENST00000368676.4_Missense_Mutation_p.S403R	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	403	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CTTTCTCCAGGCTGGTCTCCA	0.542																																						ENST00000368679.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1207-1209)agC>agA		ADAM metallopeptidase domain 12							75.0	73.0	74.0					10																	127760169		2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127760169G>T	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1209C>A	10.37:g.127760169G>T	ENSP00000357668:p.Ser403Arg					ADAM12_ENST00000368676.4_Missense_Mutation_p.S403R	p.S403R	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	12	1518	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	403			Peptidase M12B.		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.1209C>A	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.850539	0.51270	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	T;T	0.63255	-0.03;-0.03	5.13	3.3	0.37823	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.74366	0.3707	M	0.71581	2.175	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0	T	0.72704	-0.4213	10	0.45353	T	0.12	.	9.5509	0.39310	0.224:0.0:0.776:0.0	.	400;400;403;400;403	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	R	403	ENSP00000357668:S403R;ENSP00000357665:S403R	ENSP00000357665:S403R	S	-	3	2	ADAM12	127750159	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	2.836000	0.48183	0.759000	0.33084	-0.251000	0.11542	AGC		0.542	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			27	553	1	0	4.14947e-28	1	4.85662e-28	27	553				
KRTAP10-7	386675	broad.mit.edu	37	21	46021150	46021150	+	Missense_Mutation	SNP	C	C	T	rs368247742	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr21:46021150C>T	ENST00000380102.2	+	1	654	c.629C>T	c.(628-630)aCg>aTg	p.T210M	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	210	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						AGCTCCTGCACGCCCTCGTGC	0.667													C|||	2	0.000399361	0.0	0.0014	5008	,	,		22511	0.0		0.0	False		,,,				2504	0.001					ENST00000380102.2																			0				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(628-630)aCg>aTg		keratin associated protein 10-7		C	MET/THR,	0,4402		0,0,2201	49.0	49.0	49.0		629,	0.9	0.0	21		49	1,8557		0,1,4278	no	missense,intron	TSPEAR,KRTAP10-7	NM_198689.2,NM_144991.2	81,	0,1,6479	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging,	210/376,	46021150	1,12959	2201	4279	6480	SO:0001583	missense	386675					keratin filament		g.chr21:46021150C>T	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.629C>T	21.37:g.46021150C>T	ENSP00000369445:p.Thr210Met					TSPEAR_ENST00000323084.4_Intron	p.T210M	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN			1	654	+			210			30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	ENST00000380102.2	37	c.629C>T		.	.	.	.	.	.	.	.	.	.	N	2.156	-0.393436	0.04899	0.0	1.17E-4	ENSG00000205441	ENST00000380102	T	0.01406	4.93	3.1	0.846	0.18955	.	.	.	.	.	T	0.03871	0.0109	M	0.80422	2.495	0.09310	N	1	D	0.59357	0.985	P	0.49528	0.614	T	0.34054	-0.9844	9	0.48119	T	0.1	.	7.8101	0.29226	0.388:0.612:0.0:0.0	.	205	P60409-2	.	M	210	ENSP00000369445:T210M	ENSP00000369445:T210M	T	+	2	0	KRTAP10-7	44845578	0.000000	0.05858	0.006000	0.13384	0.017000	0.09413	-0.265000	0.08644	0.373000	0.24621	0.305000	0.20034	ACG		0.667	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		6	174	0	0	0	1	0	6	174				
GRAMD1C	54762	broad.mit.edu	37	3	113649559	113649559	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:113649559A>T	ENST00000358160.4	+	11	1582		c.e11-1		GRAMD1C_ENST00000440446.2_Splice_Site|GRAMD1C_ENST00000479212.1_Splice_Site|GRAMD1C_ENST00000472026.1_Splice_Site|GRAMD1C_ENST00000452134.2_Splice_Site	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C							integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TGTTGTTGTTAGATGTAGTAT	0.343																																						ENST00000358160.4																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						c.e11-1		GRAM domain containing 1C							158.0	150.0	152.0					3																	113649559		2203	4300	6503	SO:0001630	splice_region_variant	54762					integral to membrane		g.chr3:113649559A>T		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.1091-1A>T	3.37:g.113649559A>T						GRAMD1C_ENST00000440446.2_Splice_Site|GRAMD1C_ENST00000479212.1_Splice_Site|GRAMD1C_ENST00000452134.2_Splice_Site|GRAMD1C_ENST00000472026.1_Splice_Site		NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN			11	1582	+								A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Splice_Site	SNP	ENST00000358160.4	37		CCDS33826.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.448563	0.84101	.	.	ENSG00000178075	ENST00000358160;ENST00000452134;ENST00000472026;ENST00000462838;ENST00000440446	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.736	0.62817	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRAMD1C	115132249	1.000000	0.71417	0.995000	0.50966	0.937000	0.57800	7.091000	0.76923	2.236000	0.73375	0.533000	0.62120	.		0.343	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577	Intron	7	119	0	0	0	1	0	7	119				
KRT28	162605	broad.mit.edu	37	17	38955746	38955746	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:38955746C>T	ENST00000306658.7	-	1	465	c.400G>A	c.(400-402)Gat>Aat	p.D134N		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TAGTCATGATCAAGTCCACGG	0.388																																					Melanoma(19;789 869 15380 26882 39836)	ENST00000306658.7																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(400-402)Gat>Aat		keratin 28							146.0	143.0	144.0					17																	38955746		2203	4300	6503	SO:0001583	missense	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38955746C>T	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.400G>A	17.37:g.38955746C>T	ENSP00000305263:p.Asp134Asn						p.D134N	NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN			1	465	-		Breast(137;0.000301)	134			Linker 1.|Rod.			Missense_Mutation	SNP	ENST00000306658.7	37	c.400G>A	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777088	0.49786	.	.	ENSG00000173908	ENST00000306658	D	0.83992	-1.79	5.19	5.19	0.71726	Filament (1);	0.094778	0.45606	D	0.000349	T	0.74359	0.3706	L	0.34521	1.04	0.38658	D	0.952009	B	0.17038	0.02	B	0.21151	0.033	T	0.72272	-0.4342	10	0.51188	T	0.08	.	10.0974	0.42484	0.0:0.9077:0.0:0.0923	.	134	Q7Z3Y7	K1C28_HUMAN	N	134	ENSP00000305263:D134N	ENSP00000305263:D134N	D	-	1	0	KRT28	36209272	0.002000	0.14202	0.993000	0.49108	0.856000	0.48823	0.956000	0.29202	2.596000	0.87737	0.655000	0.94253	GAT		0.388	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		35	223	0	0	0	1	0	35	223				
SLC12A2	6558	broad.mit.edu	37	5	127507357	127507357	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:127507357A>T	ENST00000262461.2	+	19	2912		c.e19-1		SLC12A2_ENST00000343225.4_Splice_Site	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2						ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	ttttgttcttAGTGATGCTTT	0.269																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.e19-1		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)						81.0	88.0	86.0					5																	127507357		2203	4296	6499	SO:0001630	splice_region_variant	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127507357A>T		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2724-1A>T	5.37:g.127507357A>T						SLC12A2_ENST00000343225.4_Splice_Site		NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	19	2912	+		all_cancers(142;0.0972)|Prostate(80;0.151)						Q8N713|Q8WWH7	Splice_Site	SNP	ENST00000262461.2	37		CCDS4144.1	.	.	.	.	.	.	.	.	.	.	A	16.33	3.093048	0.56075	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1644	0.72811	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC12A2	127535256	1.000000	0.71417	0.935000	0.37517	0.585000	0.36419	8.508000	0.90525	2.232000	0.73038	0.528000	0.53228	.		0.269	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046	Intron	4	114	0	0	0	1	0	4	114				
ARHGAP32	9743	broad.mit.edu	37	11	128840160	128840160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:128840160G>A	ENST00000310343.9	-	22	4905	c.4906C>T	c.(4906-4908)Cag>Tag	p.Q1636*	ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.Q1287*|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.Q1287*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1636	Interaction with GAB2.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGCTGAAGCTGAGTGACATGA	0.502																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(4906-4908)Cag>Tag		Rho GTPase activating protein 32							93.0	88.0	90.0					11																	128840160		2201	4297	6498	SO:0001587	stop_gained	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128840160G>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.4906C>T	11.37:g.128840160G>A	ENSP00000310561:p.Gln1636*					ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.Q1287*|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.Q1287*	p.Q1636*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			22	4905	-			1636			Interaction with GAB2.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Nonsense_Mutation	SNP	ENST00000310343.9	37	c.4906C>T	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	41	8.637801	0.98895	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.2033	0.98269	0.0:0.0:1.0:0.0	.	.	.	.	X	1636;1287;1287	.	ENSP00000310561:Q1636X	Q	-	1	0	ARHGAP32	128345370	1.000000	0.71417	0.990000	0.47175	0.882000	0.50991	9.422000	0.97458	2.779000	0.95612	0.655000	0.94253	CAG		0.502	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		9	36	0	0	0	1	0	9	36				
DEFB118	117285	broad.mit.edu	37	20	29960888	29960888	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:29960888T>A	ENST00000253381.2	+	2	320	c.287T>A	c.(286-288)gTa>gAa	p.V96E		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	96					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TACTTTGAAGTAAGCAGCAAG	0.458																																						ENST00000253381.2																			0				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14						c.(286-288)gTa>gAa		defensin, beta 118							110.0	104.0	106.0					20																	29960888		2203	4300	6503	SO:0001583	missense	117285				cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region		g.chr20:29960888T>A	AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"""Defensins, beta"""	16196	protein-coding gene	gene with protein product		607650	"""chromosome 20 open reading frame 63"""	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.287T>A	20.37:g.29960888T>A	ENSP00000253381:p.Val96Glu						p.V96E	NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	320	+	all_hematologic(12;0.158)		96					Q17RC4|Q8N691|Q9NUH0	Missense_Mutation	SNP	ENST00000253381.2	37	c.287T>A	CCDS13177.1	.	.	.	.	.	.	.	.	.	.	T	7.329	0.618579	0.14129	.	.	ENSG00000131068	ENST00000253381	T	0.10573	2.86	2.13	-1.87	0.07737	.	.	.	.	.	T	0.05410	0.0143	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41034	-0.9531	9	0.87932	D	0	.	0.2429	0.00194	0.2298:0.1538:0.235:0.3813	.	96	Q96PH6	DB118_HUMAN	E	96	ENSP00000253381:V96E	ENSP00000253381:V96E	V	+	2	0	DEFB118	29424549	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.014000	0.13333	-0.503000	0.06586	-1.437000	0.01076	GTA		0.458	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078501.2	NM_054112		6	360	0	0	0	1	0	6	360				
RPL27A	6157	broad.mit.edu	37	11	8707275	8707275	+	Silent	SNP	C	C	A	rs375338199		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:8707275C>A	ENST00000314138.6	+	5	772	c.369C>A	c.(367-369)atC>atA	p.I123I	RPL27A_ENST00000530913.1_Silent_p.I66I|SNORA3_ENST00000364113.1_RNA|RPL27A_ENST00000526562.1_Silent_p.I66I|RPL27A_ENST00000524496.1_Silent_p.I66I|SNORA45_ENST00000391305.1_RNA|RPL27A_ENST00000532359.1_Silent_p.I88I|RPL27A_ENST00000530022.1_Silent_p.I66I	NM_000990.4	NP_000981.1	P46776	RL27A_HUMAN	ribosomal protein L27a	123					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2				Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGCCTGTCATCGTGAAGGCCA	0.473																																						ENST00000314138.6																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						c.(367-369)atC>atA		ribosomal protein L27a							72.0	74.0	74.0					11																	8707275		2201	4296	6497	SO:0001819	synonymous_variant	6157				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr11:8707275C>A	U14968	CCDS7790.1	11p15	2011-04-06				ENSG00000166441		"""L ribosomal proteins"""	10329	protein-coding gene	gene with protein product		603637				7772601, 9582194	Standard	NM_000990		Approved	L27A	uc001mgs.4	P46776		ENST00000314138.6:c.369C>A	11.37:g.8707275C>A						RPL27A_ENST00000530022.1_Silent_p.I66I|RPL27A_ENST00000530913.1_Silent_p.I66I|RPL27A_ENST00000526562.1_Silent_p.I66I|RPL27A_ENST00000524496.1_Silent_p.I66I|RPL27A_ENST00000532359.1_Silent_p.I88I	p.I123I	NM_000990.4	NP_000981.1	P46776	RL27A_HUMAN		Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	5	772	+			123					B2R4B3	Silent	SNP	ENST00000314138.6	37	c.369C>A	CCDS7790.1																																																																																				0.473	RPL27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386506.1	NM_000990		10	180	1	0	0.000151284	1	0.00016008	10	180				
ZNF826P	664701	broad.mit.edu	37	19	20607672	20607672	+	RNA	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:20607672G>T	ENST00000502675.1	-	0	90					NR_036455.1		Q6ZT77	ZN826_HUMAN	zinc finger protein 826, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(4)	4						CAGAGGCTGGGCCTCTATGAG	0.557																																						ENST00000502675.1																			0				large_intestine(4)	4																																														664701							g.chr19:20607672G>T	BC016785		19p12	2010-08-03	2010-08-03	2010-08-03	ENSG00000231205	ENSG00000231205			33875	pseudogene	pseudogene			"""zinc finger protein 826"""	ZNF826			Standard	NR_036455		Approved	FLJ44894	uc021urn.2	Q6ZT77	OTTHUMG00000162773		19.37:g.20607672G>T								NR_036455.1						0	90	-									RNA	SNP	ENST00000502675.1	37																																																																																						0.557	ZNF826P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000370365.1	NM_001039884		20	6	1	0	5.26018e-13	1	6.04008e-13	20	6				
ATAD3B	83858	broad.mit.edu	37	1	1425751	1425751	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:1425751G>A	ENST00000308647.7	+	14	1568	c.1452G>A	c.(1450-1452)ctG>ctA	p.L484L		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	484						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGGAGCGCCTGGTGAGACTGC	0.592																																						ENST00000308647.7																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(1450-1452)ctG>ctA		ATPase family, AAA domain containing 3B							74.0	65.0	68.0					1																	1425751		2202	4299	6501	SO:0001819	synonymous_variant	83858						ATP binding|nucleoside-triphosphatase activity	g.chr1:1425751G>A	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"""ATPases / AAA-type"""	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1452G>A	1.37:g.1425751G>A							p.L484L	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	14	1568	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	484					A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Silent	SNP	ENST00000308647.7	37	c.1452G>A	CCDS30.1																																																																																				0.592	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		4	10	0	0	0	1	0	4	10				
DQX1	165545	broad.mit.edu	37	2	74756309	74756309	+	5'Flank	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:74756309C>T	ENST00000404568.3	-	0	0				AUP1_ENST00000377526.3_Missense_Mutation_p.V97M|HTRA2_ENST00000258080.3_5'Flank|DQX1_ENST00000393951.2_5'Flank|HTRA2_ENST00000352222.3_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1							nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						AAAGGTGTCACATGGTTGGAA	0.607																																						ENST00000377526.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						c.(289-291)Gtg>Atg		ancient ubiquitous protein 1							75.0	80.0	79.0					2																	74756309		2111	4242	6353	SO:0001631	upstream_gene_variant	550					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding	g.chr2:74756309C>T	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965		2.37:g.74756309C>T	Exception_encountered						p.V97M	NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN			3	598	-			135					Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.289G>A	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163516	0.78226	.	.	ENSG00000115307	ENST00000377526;ENST00000258081;ENST00000412627	D	0.93366	-3.21	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.94551	0.8245	L	0.49778	1.585	0.50171	D	0.999854	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.988;0.991;0.988	D	0.93650	0.6972	10	0.54805	T	0.06	-10.2596	9.4568	0.38760	0.0:0.9062:0.0:0.0938	.	97;154;97	B4DW71;E7EU18;Q9Y679-2	.;.;.	M	97;97;99	ENSP00000366748:V97M	ENSP00000258081:V97M	V	-	1	0	AUP1	74609817	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.647000	0.67923	2.669000	0.90835	0.561000	0.74099	GTG		0.607	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		4	86	0	0	0	1	0	4	86				
NCOA2	10499	broad.mit.edu	37	8	71129001	71129001	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:71129001T>A	ENST00000452400.2	-	3	163		c.e3-2			NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2						cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TATCAGCAACTAAAACAGAAA	0.408			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.e3-2		nuclear receptor coactivator 2							98.0	92.0	94.0					8																	71129001		1831	4100	5931	SO:0001630	splice_region_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71129001T>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.19-2A>T	8.37:g.71129001T>A								NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		3	163	-	Breast(64;0.201)							Q14CD2	Splice_Site	SNP	ENST00000452400.2	37		CCDS47872.1																																																																																				0.408	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1		Intron	4	97	0	0	0	1	0	4	97				
TPCN2	219931	broad.mit.edu	37	11	68837896	68837896	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:68837896A>T	ENST00000294309.3	+	9	930		c.e9-1		TPCN2_ENST00000542467.1_Splice_Site|TPCN2_ENST00000442692.2_Splice_Site	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2						calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTTTTCTTTTAGTGATGATTC	0.443																																						ENST00000294309.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32						c.e9-1		two pore segment channel 2							115.0	111.0	112.0					11																	68837896		2200	4294	6494	SO:0001630	splice_region_variant	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68837896A>T	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.830-1A>T	11.37:g.68837896A>T						TPCN2_ENST00000542467.1_Splice_Site|TPCN2_ENST00000442692.2_Splice_Site		NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		9	930	+								Q9NT82	Splice_Site	SNP	ENST00000294309.3	37		CCDS8189.1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.974584	0.34848	.	.	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000535009;ENST00000542467	.	.	.	4.33	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4864	0.61369	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TPCN2	68594472	1.000000	0.71417	0.977000	0.42913	0.256000	0.26092	7.355000	0.79434	1.733000	0.51620	0.375000	0.23000	.		0.443	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075	Intron	5	104	0	0	0	1	0	5	104				
TMC5	79838	broad.mit.edu	37	16	19488785	19488785	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:19488785T>A	ENST00000396229.2	+	13	2863	c.2114T>A	c.(2113-2115)aTc>aAc	p.I705N	TMC5_ENST00000541464.1_Missense_Mutation_p.I653N|TMC5_ENST00000561503.1_Missense_Mutation_p.I346N|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000542583.2_Missense_Mutation_p.I705N|TMC5_ENST00000564959.1_Missense_Mutation_p.I388N|TMC5_ENST00000381414.4_Missense_Mutation_p.I705N|TMC5_ENST00000219821.5_Missense_Mutation_p.I459N	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	705					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AAAATATCAATCATTGGCATT	0.393																																						ENST00000396229.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(2113-2115)aTc>aAc		transmembrane channel-like 5							237.0	220.0	226.0					16																	19488785		2197	4300	6497	SO:0001583	missense	79838					integral to membrane		g.chr16:19488785T>A	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2114T>A	16.37:g.19488785T>A	ENSP00000379531:p.Ile705Asn					TMC5_ENST00000564959.1_Missense_Mutation_p.I388N|TMC5_ENST00000561503.1_Missense_Mutation_p.I346N|TMC5_ENST00000541464.1_Missense_Mutation_p.I653N|TMC5_ENST00000381414.4_Missense_Mutation_p.I705N|TMC5_ENST00000219821.5_Missense_Mutation_p.I459N|TMC5_ENST00000542583.2_Missense_Mutation_p.I705N|CTA-363E6.6_ENST00000561762.1_RNA	p.I705N	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN			13	2863	+			705					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.2114T>A	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	T	14.52	2.561261	0.45590	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.66815	-0.23;0.89;0.89;0.89;0.89	4.33	4.33	0.51752	.	0.116737	0.56097	D	0.000024	T	0.78528	0.4297	M	0.80183	2.485	0.35988	D	0.836502	D;P;D;D;D;D	0.71674	0.998;0.568;0.993;0.987;0.996;0.998	D;B;D;P;D;D	0.68943	0.961;0.265;0.943;0.878;0.914;0.961	T	0.80103	-0.1522	10	0.11182	T	0.66	-18.1631	13.4263	0.61028	0.0:0.0:0.0:1.0	.	653;388;459;459;705;705	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;.;TMC5_HUMAN;.	N	653;705;705;705;459;388	ENSP00000441227:I653N;ENSP00000370822:I705N;ENSP00000379531:I705N;ENSP00000446274:I705N;ENSP00000219821:I459N	ENSP00000219821:I459N	I	+	2	0	TMC5	19396286	0.991000	0.36638	0.826000	0.32828	0.104000	0.19210	6.226000	0.72277	1.714000	0.51371	0.533000	0.62120	ATC		0.393	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		123	250	0	0	0	1	0	123	250				
PTGR1	22949	broad.mit.edu	37	9	114337124	114337124	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:114337124T>A	ENST00000407693.2	-	8	914		c.e8-2		ZNF483_ENST00000358151.4_Intron|PTGR1_ENST00000309195.5_Splice_Site|PTGR1_ENST00000238248.3_Splice_Site|RP11-16L21.7_ENST00000450154.1_RNA|PTGR1_ENST00000538962.1_Splice_Site	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1						arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						TCCACCTACCTAAACAGATAG	0.368																																					Ovarian(200;132 2151 7551 19220 46064)	ENST00000407693.2																			0				endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						c.e8-2		prostaglandin reductase 1							83.0	78.0	80.0					9																	114337124		2203	4300	6503	SO:0001630	splice_region_variant	22949				leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr9:114337124T>A	D49387	CCDS6779.1, CCDS55331.1	9q32	2008-06-04	2008-06-02	2008-06-02	ENSG00000106853	ENSG00000106853	1.3.1.74, 1.3.1.48		18429	protein-coding gene	gene with protein product	"""zinc binding alcohol dehydrogenase domain containing 3"""	601274	"""leukotriene B4 12-hydroxydehydrogenase"""	LTB4DH		8576264, 17449869	Standard	NM_001146109		Approved	ZADH3	uc004bfh.2	Q14914	OTTHUMG00000020493	ENST00000407693.2:c.652-2A>T	9.37:g.114337124T>A						PTGR1_ENST00000238248.3_Splice_Site|PTGR1_ENST00000309195.5_Splice_Site|PTGR1_ENST00000538962.1_Splice_Site|ZNF483_ENST00000358151.4_Intron|RP11-16L21.7_ENST00000450154.1_RNA		NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN			8	914	-								A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Splice_Site	SNP	ENST00000407693.2	37		CCDS6779.1	.	.	.	.	.	.	.	.	.	.	T	18.54	3.645358	0.67358	.	.	ENSG00000106853	ENST00000538962;ENST00000309195;ENST00000407693;ENST00000374324;ENST00000238248	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7094	0.57082	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTGR1	113376945	1.000000	0.71417	0.998000	0.56505	0.901000	0.52897	6.753000	0.74904	2.151000	0.67156	0.482000	0.46254	.		0.368	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053647.2		Intron	4	78	0	0	0	1	0	4	78				
BEND6	221336	broad.mit.edu	37	6	56882003	56882003	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:56882003A>T	ENST00000370746.3	+	5	788		c.e5-1		BEND6_ENST00000545789.1_Splice_Site|BEND6_ENST00000370750.2_Splice_Site|BEND6_ENST00000484701.1_Splice_Site	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						TTATCTTTTTAGTTCCAGATT	0.313																																						ENST00000370750.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						c.e6-1		BEN domain containing 6							39.0	36.0	37.0					6																	56882003		1816	4070	5886	SO:0001630	splice_region_variant	221336							g.chr6:56882003A>T	AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"""BEN domain containing"""	20871	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 65"""	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.520-1A>T	6.37:g.56882003A>T						BEND6_ENST00000484701.1_Splice_Site|BEND6_ENST00000370746.3_Splice_Site|BEND6_ENST00000545789.1_Splice_Site				Q5SZJ8	BEND6_HUMAN			6	1169	+								Q4G0W8|Q8N662|Q96NS6	Splice_Site	SNP	ENST00000370746.3	37		CCDS43476.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.283056	0.59867	.	.	ENSG00000151917	ENST00000322055;ENST00000370746;ENST00000545789	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2057	0.54350	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BEND6	56989962	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	5.686000	0.68211	2.014000	0.59158	0.459000	0.35465	.		0.313	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	NM_152731	Intron	4	57	0	0	0	1	0	4	57				
RIPK4	54101	broad.mit.edu	37	21	43171362	43171362	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr21:43171362G>T	ENST00000352483.2	-	3	582	c.518C>A	c.(517-519)tCg>tAg	p.S173*	RIPK4_ENST00000332512.3_Nonsense_Mutation_p.S173*|RIPK4_ENST00000542057.1_Nonsense_Mutation_p.S110*|RIPK4_ENST00000544709.1_Nonsense_Mutation_p.S110*			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	173	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAGGTCATGCGAGTGGGACAG	0.537																																						ENST00000352483.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(517-519)tCg>tAg		receptor-interacting serine-threonine kinase 4							138.0	120.0	126.0					21																	43171362		2203	4300	6503	SO:0001587	stop_gained	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43171362G>T	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.518C>A	21.37:g.43171362G>T	ENSP00000330161:p.Ser173*					RIPK4_ENST00000544709.1_Nonsense_Mutation_p.S110*|RIPK4_ENST00000332512.3_Nonsense_Mutation_p.S173*|RIPK4_ENST00000542057.1_Nonsense_Mutation_p.S110*	p.S173*			Q96T11	Q96T11_HUMAN			3	582	-			173					Q96KH0	Nonsense_Mutation	SNP	ENST00000352483.2	37	c.518C>A		.	.	.	.	.	.	.	.	.	.	G	24.6	4.544960	0.86022	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	.	.	.	4.59	4.59	0.56863	.	0.108389	0.40302	N	0.001126	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9523	16.3904	0.83533	0.0:0.0:1.0:0.0	.	.	.	.	X	173;173;110;110	.	ENSP00000332454:S173X	S	-	2	0	RIPK4	42044431	1.000000	0.71417	0.891000	0.34965	0.339000	0.28857	7.008000	0.76341	2.088000	0.63022	0.561000	0.74099	TCG		0.537	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		7	368	1	0	7.48243e-07	1	8.058e-07	7	368				
DYSF	8291	broad.mit.edu	37	2	71883318	71883318	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:71883318G>A	ENST00000258104.3	+	42	4813	c.4536G>A	c.(4534-4536)gtG>gtA	p.V1512V	DYSF_ENST00000409651.1_Silent_p.V1544V|DYSF_ENST00000409744.1_Silent_p.V1520V|DYSF_ENST00000409762.1_Silent_p.V1529V|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Silent_p.V1513V|DYSF_ENST00000410020.3_Silent_p.V1551V|DYSF_ENST00000429174.2_Silent_p.V1533V|DYSF_ENST00000410041.1_Silent_p.V1530V|DYSF_ENST00000409582.3_Silent_p.V1550V|DYSF_ENST00000413539.2_Silent_p.V1543V|DYSF_ENST00000409366.1_Silent_p.V1534V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1512					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGGAGAATGTGGAGGCCTTTG	0.483																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(4534-4536)gtG>gtA		dysferlin							186.0	184.0	185.0					2																	71883318		2203	4300	6503	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71883318G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4536G>A	2.37:g.71883318G>A						DYSF_ENST00000409762.1_Silent_p.V1529V|DYSF_ENST00000413539.2_Silent_p.V1543V|DYSF_ENST00000409366.1_Silent_p.V1534V|DYSF_ENST00000429174.2_Silent_p.V1533V|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Silent_p.V1513V|DYSF_ENST00000410020.3_Silent_p.V1551V|DYSF_ENST00000410041.1_Silent_p.V1530V|DYSF_ENST00000409744.1_Silent_p.V1520V|DYSF_ENST00000409651.1_Silent_p.V1544V|DYSF_ENST00000409582.3_Silent_p.V1550V	p.V1512V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			42	4813	+			1512					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.4536G>A	CCDS1918.1																																																																																				0.483	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		27	400	0	0	0	1	0	27	400				
SH2D6	284948	broad.mit.edu	37	2	85662808	85662808	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:85662808G>A	ENST00000340326.2	+	3	433	c.272G>A	c.(271-273)cGc>cAc	p.R91H	SH2D6_ENST00000389938.2_Missense_Mutation_p.R59H|Y_RNA_ENST00000384478.1_RNA|SH2D6_ENST00000481426.2_3'UTR	NM_198482.1	NP_940884.1	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	91	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									central_nervous_system(1)|lung(2)	3						TATACCGTGCGCCCCAGCTCA	0.652																																						ENST00000389938.2																			0				central_nervous_system(1)|lung(2)	3						c.(175-177)cGc>cAc		SH2 domain containing 6							39.0	43.0	42.0					2																	85662808		2203	4300	6503	SO:0001583	missense	284948							g.chr2:85662808G>A	AF450483	CCDS1976.1	2p11.2	2013-02-14			ENSG00000152292	ENSG00000152292		"""SH2 domain containing"""	30439	protein-coding gene	gene with protein product						12477932	Standard	NM_198482		Approved	FLJ35993	uc002spq.3	Q7Z4S9	OTTHUMG00000130176	ENST00000340326.2:c.272G>A	2.37:g.85662808G>A	ENSP00000341867:p.Arg91His					SH2D6_ENST00000481426.2_3'UTR|SH2D6_ENST00000340326.2_Missense_Mutation_p.R91H	p.R59H			Q7Z4S9	SH2D6_HUMAN			19	1490	+			91					A6ND14|Q6R306	Missense_Mutation	SNP	ENST00000340326.2	37	c.176G>A	CCDS1976.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686379	0.88639	.	.	ENSG00000152292	ENST00000389938;ENST00000340326	D;D	0.99292	-5.7;-5.7	4.87	4.87	0.63330	SH2 motif (4);	0.000000	0.64402	D	0.000006	D	0.99560	0.9842	H	0.95437	3.67	0.50467	D	0.999874	D	0.89917	1.0	D	0.91635	0.999	D	0.97981	1.0349	10	0.87932	D	0	-34.5067	13.5201	0.61563	0.0:0.0:1.0:0.0	.	91	Q7Z4S9	SH2D6_HUMAN	H	59;91	ENSP00000374588:R59H;ENSP00000341867:R91H	ENSP00000341867:R91H	R	+	2	0	SH2D6	85516319	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	6.340000	0.72973	2.256000	0.74724	0.462000	0.41574	CGC		0.652	SH2D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252493.2	NM_198482		3	17	0	0	0	1	0	3	17				
KMT2C	58508	broad.mit.edu	37	7	151842348	151842348	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:151842348G>T	ENST00000262189.6	-	54	14282	c.14064C>A	c.(14062-14064)acC>acA	p.T4688T	KMT2C_ENST00000485655.2_5'Flank|KMT2C_ENST00000355193.2_Silent_p.T4745T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4688	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CGTATCGGAAGGTATAATTTT	0.483																																						ENST00000355193.2																			0											c.(14233-14235)acC>acA		lysine (K)-specific methyltransferase 2C							83.0	73.0	76.0					7																	151842348		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151842348G>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.14064C>A	7.37:g.151842348G>T						KMT2C_ENST00000262189.6_Silent_p.T4688T	p.T4745T							55	14453	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.14235C>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	9.206	1.029600	0.19512	.	.	ENSG00000055609	ENST00000360104	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	T	0.56108	0.1963	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55457	-0.8138	4	.	.	.	.	5.9035	0.18980	0.0749:0.1368:0.6466:0.1417	.	.	.	.	I	2249	.	.	L	-	1	0	MLL3	151473281	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.620000	0.24403	2.607000	0.88179	0.655000	0.94253	CTT		0.483	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			50	129	1	0	1.04682e-39	1	1.24118e-39	50	129				
DDX60L	91351	broad.mit.edu	37	4	169392986	169392986	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:169392986C>T	ENST00000511577.1	-	4	423	c.176G>A	c.(175-177)gGa>gAa	p.G59E	DDX60L_ENST00000505890.1_Missense_Mutation_p.G59E|DDX60L_ENST00000260184.7_Missense_Mutation_p.G59E|DDX60L_ENST00000515088.1_5'UTR|SNORA51_ENST00000384442.1_RNA			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	59							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GAGATTCTGTCCCCACTTGAA	0.353																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(175-177)gGa>gAa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							89.0	87.0	87.0					4																	169392986		1925	4167	6092	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169392986C>T	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.176G>A	4.37:g.169392986C>T	ENSP00000422423:p.Gly59Glu					DDX60L_ENST00000260184.7_Missense_Mutation_p.G59E|DDX60L_ENST00000515088.1_5'UTR|DDX60L_ENST00000505890.1_Missense_Mutation_p.G59E	p.G59E			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	4	423	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	59					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.176G>A		.	.	.	.	.	.	.	.	.	.	C	16.35	3.097842	0.56075	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505696;ENST00000514748;ENST00000512371	T;T;T	0.25579	1.79;1.79;1.79	4.23	4.23	0.50019	.	0.000000	0.31041	U	0.008366	T	0.46268	0.1384	M	0.68317	2.08	0.24839	N	0.992472	D;D;D	0.76494	0.999;0.991;0.987	D;P;P	0.71656	0.974;0.669;0.724	T	0.30822	-0.9965	10	0.52906	T	0.07	.	12.4771	0.55821	0.1682:0.8318:0.0:0.0	.	59;59;59	D6RB62;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	E	59	ENSP00000260184:G59E;ENSP00000422423:G59E;ENSP00000422202:G59E	ENSP00000260184:G59E	G	-	2	0	DDX60L	169629561	0.096000	0.21769	0.076000	0.20297	0.845000	0.48019	1.179000	0.31993	1.846000	0.53633	0.467000	0.42956	GGA		0.353	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		41	51	0	0	0	1	0	41	51				
PLEKHA3	65977	broad.mit.edu	37	2	179360386	179360386	+	Splice_Site	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:179360386T>G	ENST00000234453.5	+	5	1016	c.614T>G	c.(613-615)aTg>aGg	p.M205R		NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	205						Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			CCTGTTCAAATGGTTTGAACT	0.398																																						ENST00000234453.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11						c.e5+1		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							167.0	147.0	154.0					2																	179360386		2203	4300	6503	SO:0001630	splice_region_variant	65977					cytoplasm|membrane		g.chr2:179360386T>G	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.615+1T>G	2.37:g.179360386T>G							p.M205_splice	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)		5	1016	+			205					Q4ZG69|Q86TQ1|Q9NXT3	Splice_Site	SNP	ENST00000234453.5	37	c.615_splice	CCDS33336.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.055104	0.75960	.	.	ENSG00000116095	ENST00000234453;ENST00000421187	T	0.11930	2.73	5.37	5.37	0.77165	.	0.259853	0.49305	D	0.000152	T	0.10035	0.0246	L	0.27053	0.805	0.54753	D	0.99998	P	0.42827	0.791	B	0.34385	0.181	T	0.15435	-1.0437	10	0.35671	T	0.21	5.0401	15.6672	0.77238	0.0:0.0:0.0:1.0	.	205	Q9HB20	PKHA3_HUMAN	R	205;14	ENSP00000234453:M205R	ENSP00000234453:M205R	M	+	2	0	PLEKHA3	179068632	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.148000	0.58085	2.158000	0.67659	0.460000	0.39030	ATG		0.398	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091	Missense_Mutation	135	176	0	0	0	1	0	135	176				
COX10	1352	broad.mit.edu	37	17	14005509	14005509	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:14005509A>T	ENST00000261643.3	+	4	651	c.574A>T	c.(574-576)Act>Tct	p.T192S	COX10_ENST00000537334.1_5'UTR|COX10_ENST00000536205.1_Intron	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	192					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TTTCCTGCTTACTTCTGTTGG	0.473																																						ENST00000261643.3																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(574-576)Act>Tct		cytochrome c oxidase assembly homolog 10 (yeast)							173.0	152.0	159.0					17																	14005509		2203	4300	6503	SO:0001583	missense	1352				heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity	g.chr17:14005509A>T	U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"""Mitochondrial respiratory chain complex assembly factors"""	2260	protein-coding gene	gene with protein product	"""heme A: farnesyltransferase"", ""protoheme IX farnesyltransferase, mitochondrial"", ""heme O synthase"""	602125	"""COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)"", ""COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"""			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.574A>T	17.37:g.14005509A>T	ENSP00000261643:p.Thr192Ser					COX10_ENST00000537334.1_5'UTR|COX10_ENST00000536205.1_Intron	p.T192S	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)	4	651	+		all_lung(20;0.06)|Lung SC(565;0.168)	192					B2R6U5|B4DJ50|O15334|Q969F7	Missense_Mutation	SNP	ENST00000261643.3	37	c.574A>T	CCDS11166.1	.	.	.	.	.	.	.	.	.	.	A	9.775	1.173783	0.21704	.	.	ENSG00000006695	ENST00000261643	D	0.92299	-3.01	5.26	0.0365	0.14192	.	0.319666	0.32952	N	0.005442	D	0.85465	0.5703	L	0.43923	1.385	0.80722	D	1	B	0.22541	0.071	B	0.25759	0.063	T	0.72364	-0.4316	10	0.17832	T	0.49	-20.9255	8.654	0.34051	0.3813:0.0:0.6187:0.0	.	192	Q12887	COX10_HUMAN	S	192	ENSP00000261643:T192S	ENSP00000261643:T192S	T	+	1	0	COX10	13946234	0.995000	0.38212	0.022000	0.16811	0.646000	0.38490	2.775000	0.47702	0.089000	0.17243	-1.119000	0.02030	ACT		0.473	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303		7	521	0	0	0	1	0	7	521				
C1S	716	broad.mit.edu	37	12	7172402	7172402	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:7172402A>T	ENST00000406697.1	+	9	1145		c.e9-1		C1S_ENST00000360817.5_Splice_Site|C1S_ENST00000328916.3_Splice_Site|C1S_ENST00000402681.3_Splice_Site			P09871	C1S_HUMAN	complement component 1, s subcomponent						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTTCTCTGTTAGTTAATTGCA	0.418																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.e9-1		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						66.0	65.0	65.0					12																	7172402		2203	4300	6503	SO:0001630	splice_region_variant	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7172402A>T		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.518-1A>T	12.37:g.7172402A>T						C1S_ENST00000328916.3_Splice_Site|C1S_ENST00000360817.5_Splice_Site|C1S_ENST00000402681.3_Splice_Site				P09871	C1S_HUMAN			9	1145	+								D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Splice_Site	SNP	ENST00000406697.1	37		CCDS31735.1	.	.	.	.	.	.	.	.	.	.	A	11.79	1.745149	0.30955	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681;ENST00000542978	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0034	0.80327	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1S	7042663	1.000000	0.71417	0.987000	0.45799	0.181000	0.23173	7.053000	0.76641	2.371000	0.80710	0.533000	0.62120	.		0.418	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734	Intron	5	124	0	0	0	1	0	5	124				
OR8I2	120586	broad.mit.edu	37	11	55861593	55861593	+	Silent	SNP	G	G	A	rs577866623		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:55861593G>A	ENST00000302124.2	+	1	841	c.810G>A	c.(808-810)gcG>gcA	p.A270A		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A270A(15)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGACCCAGGCGCAGGTGGCAT	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		20053	0.0		0.001	False		,,,				2504	0.0					ENST00000302124.2																			15	Substitution - coding silent(15)	p.A270A(15)	endometrium(15)	NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(808-810)gcG>gcA		olfactory receptor, family 8, subfamily I, member 2							87.0	85.0	86.0					11																	55861593		2201	4296	6497	SO:0001819	synonymous_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861593G>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.810G>A	11.37:g.55861593G>A						OR8I2_ENST00000560768.1_3'UTR	p.A270A			Q8N0Y5	OR8I2_HUMAN			1	841	+	Esophageal squamous(21;0.00693)		270					B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	ENST00000302124.2	37	c.810G>A	CCDS31517.1																																																																																				0.453	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		4	119	0	0	0	1	0	4	119				
RBBP9	10741	broad.mit.edu	37	20	18477864	18477864	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:18477864G>T	ENST00000337227.4	-	0	23				RBBP9_ENST00000493184.1_5'Flank	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9						regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						GCTGAGCCCAGCCTGCTCCCG	0.687																																						ENST00000337227.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9								retinoblastoma binding protein 9																																						10741					cytoplasm|nucleus	hydrolase activity	g.chr20:18477864G>T	AF039564	CCDS13136.1	20p11.2	2008-08-01	2001-11-28		ENSG00000089050	ENSG00000089050			9892	protein-coding gene	gene with protein product		602908	"""retinoblastoma-binding protein 9"""			9697699, 10449909	Standard	NM_006606		Approved	Bog	uc002wqy.3	O75884	OTTHUMG00000031972	ENST00000337227.4:c.-53C>A	20.37:g.18477864G>T								NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN			0	23	-								D3DW31|Q5JPH9|Q9H1D8	Translation_Start_Site	SNP	ENST00000337227.4	37		CCDS13136.1																																																																																				0.687	RBBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078175.1	NM_006606		5	7	1	0	0.014758	1	0.0153046	5	7				
MON2	23041	broad.mit.edu	37	12	62928623	62928623	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:62928623A>T	ENST00000393632.2	+	13	2024		c.e13-1		MON2_ENST00000552738.1_Splice_Site|MON2_ENST00000546600.1_Splice_Site|MON2_ENST00000393629.2_Splice_Site|MON2_ENST00000393630.3_Splice_Site|MON2_ENST00000552115.1_Splice_Site|MON2_ENST00000280379.6_Splice_Site	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)						actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTTTCCTTTAAGTTAGTAGGG	0.323																																						ENST00000393630.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.e13-1		MON2 homolog (S. cerevisiae)							124.0	115.0	118.0					12																	62928623		2203	4300	6503	SO:0001630	splice_region_variant	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62928623A>T		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.1634-1A>T	12.37:g.62928623A>T						MON2_ENST00000280379.6_Splice_Site|MON2_ENST00000393629.2_Splice_Site|MON2_ENST00000393632.2_Splice_Site|MON2_ENST00000552115.1_Splice_Site|MON2_ENST00000552738.1_Splice_Site|MON2_ENST00000546600.1_Splice_Site		NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	13	2024	+								A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Splice_Site	SNP	ENST00000393632.2	37		CCDS31849.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.563873	0.45694	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000261188;ENST00000552738;ENST00000393629;ENST00000552115	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8645	0.70404	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MON2	61214890	1.000000	0.71417	0.962000	0.40283	0.519000	0.34347	5.890000	0.69774	1.971000	0.57363	0.454000	0.30748	.		0.323	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026	Intron	6	80	0	0	0	1	0	6	80				
KLHL7	55975	broad.mit.edu	37	7	23180386	23180386	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:23180386A>T	ENST00000339077.5	+	5	685		c.e5-1		KLHL7_ENST00000322231.7_Splice_Site|KLHL7_ENST00000479288.1_Splice_Site|KLHL7_ENST00000542558.1_Splice_Site|KLHL7_ENST00000545443.1_Splice_Site|KLHL7_ENST00000409689.1_Splice_Site|KLHL7_ENST00000539124.1_Splice_Site	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7						protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCTGTGTTTAGGTATAAGTG	0.318																																						ENST00000322231.7																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.e6-1		kelch-like family member 7							59.0	59.0	59.0					7																	23180386		2203	4300	6503	SO:0001630	splice_region_variant	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23180386A>T		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.443-1A>T	7.37:g.23180386A>T						KLHL7_ENST00000409689.1_Splice_Site|KLHL7_ENST00000542558.1_Splice_Site|KLHL7_ENST00000545443.1_Splice_Site|KLHL7_ENST00000479288.1_Splice_Site|KLHL7_ENST00000539124.1_Splice_Site|KLHL7_ENST00000339077.4_Splice_Site				Q8IXQ5	KLHL7_HUMAN			6	866	+								A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Splice_Site	SNP	ENST00000339077.5	37		CCDS34609.1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.334168	0.41297	.	.	ENSG00000122550	ENST00000322231;ENST00000339077;ENST00000539124;ENST00000409689;ENST00000545443	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1304	0.72517	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLHL7	23146911	1.000000	0.71417	0.978000	0.43139	0.327000	0.28475	8.606000	0.90888	2.032000	0.59987	0.379000	0.24179	.		0.318	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846	Intron	4	88	0	0	0	1	0	4	88				
ADAMTS20	80070	broad.mit.edu	37	12	43858392	43858392	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:43858392A>T	ENST00000389420.3	-	10	1509		c.e10+1		ADAMTS20_ENST00000553158.1_Splice_Site	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20						extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCTTTTCTTACTATATGGGG	0.333																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.e10+1		ADAM metallopeptidase with thrombospondin type 1 motif, 20							81.0	83.0	83.0					12																	43858392		2203	4300	6503	SO:0001630	splice_region_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43858392A>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1509+1T>A	12.37:g.43858392A>T						ADAMTS20_ENST00000553158.1_Splice_Site		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	10	1509	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)						A6NNC9|J3QT00	Splice_Site	SNP	ENST00000389420.3	37		CCDS31778.2	.	.	.	.	.	.	.	.	.	.	A	12.47	1.948022	0.34377	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5957	0.68403	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS20	42144659	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	8.887000	0.92456	1.987000	0.57996	0.482000	0.46254	.		0.333	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	Intron	4	99	0	0	0	1	0	4	99				
XRCC6BP1	91419	broad.mit.edu	37	12	58350468	58350468	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:58350468A>T	ENST00000300145.3	+	6	662		c.e6-1		XRCC6BP1_ENST00000546709.1_Splice_Site	NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1						double-strand break repair via nonhomologous end joining (GO:0006303)|protein phosphorylation (GO:0006468)	DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)	DNA-dependent protein kinase activity (GO:0004677)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						CCTTCTTTTTAGACTTGTGTG	0.308																																						ENST00000300145.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						c.e6-1		XRCC6 binding protein 1							103.0	94.0	96.0					12																	58350468		1821	4076	5897	SO:0001630	splice_region_variant	91419				double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity	g.chr12:58350468A>T	AF078164	CCDS41802.1	12q14.1	2006-01-09				ENSG00000166896			29452	protein-coding gene	gene with protein product	"""Ku70 binding protein 3"""					10219089	Standard	XM_005269223		Approved	KUB3	uc001sqp.3	Q9Y6H3	OTTHUMG00000170493	ENST00000300145.3:c.538-1A>T	12.37:g.58350468A>T						XRCC6BP1_ENST00000546709.1_Splice_Site		NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN			6	662	+								Q1RLM4|Q96E81	Splice_Site	SNP	ENST00000300145.3	37		CCDS41802.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.475198	0.84640	.	.	ENSG00000166896	ENST00000300145	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1164	0.81306	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	XRCC6BP1	56636735	0.991000	0.36638	0.992000	0.48379	0.956000	0.61745	2.781000	0.47750	2.269000	0.75478	0.455000	0.32223	.		0.308	XRCC6BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409390.1	NM_033276	Intron	6	176	0	0	0	1	0	6	176				
CHST10	9486	broad.mit.edu	37	2	101009797	101009797	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:101009797G>C	ENST00000264249.3	-	7	1366	c.981C>G	c.(979-981)atC>atG	p.I327M	CHST10_ENST00000409701.1_Missense_Mutation_p.I327M|CHST10_ENST00000542617.1_Missense_Mutation_p.I375M	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	327					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						CTCGTTTGCTGATGCCCAGGA	0.488																																						ENST00000264249.3																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						c.(979-981)atC>atG		carbohydrate sulfotransferase 10							149.0	135.0	140.0					2																	101009797		2203	4300	6503	SO:0001583	missense	9486				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		g.chr2:101009797G>C	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.981C>G	2.37:g.101009797G>C	ENSP00000264249:p.Ile327Met					CHST10_ENST00000409701.1_Missense_Mutation_p.I327M|CHST10_ENST00000542617.1_Missense_Mutation_p.I375M	p.I327M	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN			7	1366	-			327					Q53T18	Missense_Mutation	SNP	ENST00000264249.3	37	c.981C>G	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.453035	0.63290	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701	T;T;T	0.75938	2.02;-0.98;2.02	5.91	2.91	0.33838	.	0.237597	0.49916	D	0.000133	T	0.74512	0.3726	M	0.63843	1.955	0.52099	D	0.999947	P	0.42518	0.782	P	0.51742	0.678	T	0.72137	-0.4381	10	0.54805	T	0.06	-15.0746	3.0047	0.06025	0.1557:0.0909:0.4562:0.2972	.	327	O43529	CHSTA_HUMAN	M	327;375;327	ENSP00000264249:I327M;ENSP00000438869:I375M;ENSP00000387309:I327M	ENSP00000264249:I327M	I	-	3	3	CHST10	100376229	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	1.358000	0.34102	0.804000	0.34136	-0.140000	0.14226	ATC		0.488	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		7	205	0	0	0	1	0	7	205				
FABP12	646486	broad.mit.edu	37	8	82441764	82441764	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:82441764A>T	ENST00000360464.4	-	2	217	c.155T>A	c.(154-156)aTa>aAa	p.I52K	RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	52							lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(3)	4						TTTGGTTTTTATTGTGATGAC	0.443																																						ENST00000360464.4																			0				large_intestine(1)|lung(3)	4						c.(154-156)aTa>aAa		fatty acid binding protein 12							125.0	116.0	119.0					8																	82441764		1847	4096	5943	SO:0001583	missense	646486						lipid binding|transporter activity	g.chr8:82441764A>T		CCDS47882.1	8q21.13	2013-03-01			ENSG00000197416	ENSG00000197416		"""Fatty acid binding protein family"""	34524	protein-coding gene	gene with protein product						18786628	Standard	NM_001105281		Approved		uc011lfp.2	A6NFH5	OTTHUMG00000164679	ENST00000360464.4:c.155T>A	8.37:g.82441764A>T	ENSP00000353650:p.Ile52Lys					RP11-257P3.3_ENST00000523380.1_RNA	p.I52K	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN			2	217	-			52					B7SUN0	Missense_Mutation	SNP	ENST00000360464.4	37	c.155T>A	CCDS47882.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.072616	0.76415	.	.	ENSG00000197416	ENST00000360464	T	0.09163	3.01	4.71	4.71	0.59529	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.154165	0.56097	D	0.000029	T	0.43322	0.1242	M	0.93638	3.44	0.54753	D	0.999984	D	0.76494	0.999	D	0.87578	0.998	T	0.58476	-0.7630	10	0.87932	D	0	.	14.3401	0.66619	1.0:0.0:0.0:0.0	.	52	A6NFH5	FBP12_HUMAN	K	52	ENSP00000353650:I52K	ENSP00000353650:I52K	I	-	2	0	FABP12	82604319	1.000000	0.71417	0.979000	0.43373	0.647000	0.38526	7.271000	0.78506	1.971000	0.57363	0.533000	0.62120	ATA		0.443	FABP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379720.1	NM_001105281		4	94	0	0	0	1	0	4	94				
TICRR	90381	broad.mit.edu	37	15	90125915	90125915	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:90125915A>T	ENST00000268138.7	+	2	759		c.e2-1		TICRR_ENST00000560985.1_Splice_Site|RP11-429B14.1_ENST00000559041.1_RNA|RP11-429B14.3_ENST00000560477.1_RNA			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator						cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GTTTTATTTTAGTTGTGGGAA	0.398																																						ENST00000268138.7																			0											c.e2-1		TOPBP1-interacting checkpoint and replication regulator							97.0	93.0	94.0					15																	90125915		1851	4109	5960	SO:0001630	splice_region_variant	90381							g.chr15:90125915A>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.655-1A>T	15.37:g.90125915A>T						RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Splice_Site								2	759	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Splice_Site	SNP	ENST00000268138.7	37		CCDS10352.2	.	.	.	.	.	.	.	.	.	.	A	15.14	2.743958	0.49151	.	.	ENSG00000140534	ENST00000268138	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7855	0.78300	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C15orf42	87926919	1.000000	0.71417	0.813000	0.32504	0.536000	0.34869	6.113000	0.71553	2.193000	0.70182	0.402000	0.26972	.		0.398	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259	Intron	6	93	0	0	0	1	0	6	93				
BIN2	51411	broad.mit.edu	37	12	51693389	51693389	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:51693389A>T	ENST00000267012.4	-	6	578		c.e6+1		BIN2_ENST00000452142.2_Splice_Site|BIN2_ENST00000604560.1_Splice_Site|BIN2_ENST00000544402.1_Splice_Site	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2						cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TTTTTGTTTTACCTTGGCAGT	0.502																																						ENST00000267012.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						c.e6+1		bridging integrator 2							127.0	131.0	129.0					12																	51693389		2203	4300	6503	SO:0001630	splice_region_variant	51411					cytoplasm	protein binding	g.chr12:51693389A>T	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.516+1T>A	12.37:g.51693389A>T						BIN2_ENST00000544402.1_Splice_Site|BIN2_ENST00000604560.1_Splice_Site|BIN2_ENST00000452142.2_Splice_Site		NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN			6	578	-								Q86VV0|Q9NWK4|Q9UKN4	Splice_Site	SNP	ENST00000267012.4	37		CCDS8811.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.993188	0.54041	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3826	0.55315	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BIN2	49979656	1.000000	0.71417	0.991000	0.47740	0.452000	0.32318	8.395000	0.90188	2.090000	0.63153	0.533000	0.62120	.		0.502	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1		Intron	11	508	0	0	0	1	0	11	508				
TSNAX	7257	broad.mit.edu	37	1	231700333	231700333	+	Silent	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:231700333C>A	ENST00000366639.4	+	6	713	c.555C>A	c.(553-555)gtC>gtA	p.V185V	TSNAX-DISC1_ENST00000602962.1_Intron	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	185	Interaction with C1D.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				TCACACCTGTCGATTACCTTC	0.458																																						ENST00000366639.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(553-555)gtC>gtA		translin-associated factor X							213.0	210.0	211.0					1																	231700333		2203	4300	6503	SO:0001819	synonymous_variant	7257				cell differentiation|multicellular organismal development|spermatogenesis	nucleus|perinuclear region of cytoplasm	protein transporter activity|sequence-specific DNA binding	g.chr1:231700333C>A	X95073	CCDS1596.1	1q42.2	2008-02-05			ENSG00000116918	ENSG00000116918			12380	protein-coding gene	gene with protein product		602964				9013868	Standard	NM_005999		Approved	TRAX	uc001huw.3	Q99598	OTTHUMG00000039486	ENST00000366639.4:c.555C>A	1.37:g.231700333C>A						TRAX_ENST00000602962.1_Intron	p.V185V	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN			6	713	+		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)	185			Interaction with C1D.		B1APC6	Silent	SNP	ENST00000366639.4	37	c.555C>A	CCDS1596.1																																																																																				0.458	TSNAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095267.2	NM_005999		204	500	1	0	3.84278e-119	1	4.64708e-119	204	500				
SYNGAP1	8831	broad.mit.edu	37	6	33408591	33408591	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:33408591C>A	ENST00000418600.2	+	11	1863	c.1762C>A	c.(1762-1764)Ctt>Att	p.L588I	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.L588I|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.L529I|MIR5004_ENST00000579078.1_RNA	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	588	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CGCAGACAGGCTTATCAGCGC	0.622																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(1762-1764)Ctt>Att		synaptic Ras GTPase activating protein 1							86.0	73.0	78.0					6																	33408591		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33408591C>A	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.1762C>A	6.37:g.33408591C>A	ENSP00000403636:p.Leu588Ile					SYNGAP1_ENST00000428982.2_Missense_Mutation_p.L529I|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.L588I	p.L588I	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			11	1863	+			588			Ras-GAP.		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.1762C>A	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	32	5.161728	0.94727	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.79454	-1.27;-1.27;-1.27	5.24	5.24	0.73138	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.64402	D	0.000001	D	0.87317	0.6147	M	0.83118	2.625	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.996	D;D;D	0.85130	0.997;0.995;0.995	D	0.88537	0.3107	10	0.87932	D	0	.	16.3526	0.83220	0.0:1.0:0.0:0.0	.	588;588;588	Q96PV0;Q96PV0-2;Q96PV0-4	SYGP1_HUMAN;.;.	I	588;588;588;529	ENSP00000293748:L588I;ENSP00000403636:L588I;ENSP00000412475:L529I	ENSP00000293748:L588I	L	+	1	0	SYNGAP1	33516569	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.837000	0.62796	2.733000	0.93635	0.655000	0.94253	CTT		0.622	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		10	160	1	0	2.17888e-05	1	2.31228e-05	10	160				
RPS19	6223	broad.mit.edu	37	19	42364899	42364899	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:42364899G>T	ENST00000598742.1	+	2	427	c.55G>T	c.(55-57)Gca>Tca	p.A19S	RPS19_ENST00000593863.1_Missense_Mutation_p.A19S|RPS19_ENST00000221975.2_5'UTR	NM_001022.3	NP_001013.1	P39019	RS19_HUMAN	ribosomal protein S19	19			LA -> E (in DBA1).		cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|monocyte chemotaxis (GO:0002548)|mRNA metabolic process (GO:0016071)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleolus organization (GO:0007000)|positive regulation of cellular component movement (GO:0051272)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|protein tetramerization (GO:0051262)|response to extracellular stimulus (GO:0009991)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						CAGAGCTCTGGCAGCCTTCCT	0.557									Diamond-Blackfan Anemia																													ENST00000598742.1																			0				endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(55-57)Gca>Tca		ribosomal protein S19							124.0	125.0	124.0					19																	42364899		2203	4300	6503	SO:0001583	missense	6223	Diamond-Blackfan Anemia	Familial Cancer Database	DBA, Congenital Hypoplastic Anemia, Blackfan-Diamond Anemia, incl.: Aase syndrome	endocrine pancreas development|erythrocyte differentiation|gas transport|positive regulation of cellular component movement|response to extracellular stimulus|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr19:42364899G>T	BC000023	CCDS12588.1	19q13.2	2011-04-05				ENSG00000105372		"""S ribosomal proteins"""	10402	protein-coding gene	gene with protein product	"""Diamond-Blackfan anemia"""	603474				9582194	Standard	NM_001022		Approved	DBA, S19	uc002ort.3	P39019		ENST00000598742.1:c.55G>T	19.37:g.42364899G>T	ENSP00000470972:p.Ala19Ser					RPS19_ENST00000593863.1_Missense_Mutation_p.A19S|RPS19_ENST00000221975.2_5'UTR	p.A19S	NM_001022.3	NP_001013.1	P39019	RS19_HUMAN			2	427	+			19		LA -> E (in DBA1).				Missense_Mutation	SNP	ENST00000598742.1	37	c.55G>T	CCDS12588.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509702	0.85282	.	.	ENSG00000105372	ENST00000221975	.	.	.	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.75079	0.3801	M	0.65320	2	0.80722	D	1	B	0.28998	0.23	P	0.46758	0.526	T	0.74368	-0.3688	9	0.41790	T	0.15	-13.9021	15.585	0.76475	0.0:0.0:1.0:0.0	.	19	P39019	RS19_HUMAN	S	19	.	ENSP00000221975:A19S	A	+	1	0	RPS19	47056739	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.334000	0.59291	2.476000	0.83614	0.655000	0.94253	GCA		0.557	RPS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463049.1	NM_001022		106	58	1	0	5.97981e-71	1	7.20745e-71	106	58				
TSSK4	283629	broad.mit.edu	37	14	24675249	24675249	+	Nonsense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:24675249T>G	ENST00000287913.6	+	1	288	c.120T>G	c.(118-120)taT>taG	p.Y40*	TM9SF1_ENST00000556387.1_Intron|TSSK4_ENST00000428351.2_Nonsense_Mutation_p.Y40*|TSSK4_ENST00000339917.5_Nonsense_Mutation_p.Y40*|TM9SF1_ENST00000530611.1_Intron|TSSK4_ENST00000556621.1_Intron			Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	40	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|positive regulation of CREB transcription factor activity (GO:0032793)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		GGTCGGTATATGAGGCTTTCT	0.488																																						ENST00000339917.5																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						c.(118-120)taT>taG		testis-specific serine kinase 4							184.0	172.0	176.0					14																	24675249		2203	4300	6503	SO:0001587	stop_gained	283629				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:24675249T>G	AF542390	CCDS9618.1, CCDS53890.1	14q11.2	2006-03-31	2005-03-10	2005-03-12	ENSG00000139908	ENSG00000139908			19825	protein-coding gene	gene with protein product	"""chromosome 14 open reading frame 20"""	610711	"""serine/threonine kinase 22E"""	C14orf20, STK22E			Standard	NM_174944		Approved		uc001wnh.3	Q6SA08	OTTHUMG00000029323	ENST00000287913.6:c.120T>G	14.37:g.24675249T>G	ENSP00000287913:p.Tyr40*					TSSK4_ENST00000287913.6_Nonsense_Mutation_p.Y40*|TSSK4_ENST00000556621.1_Intron|TSSK4_ENST00000428351.2_Nonsense_Mutation_p.Y40*|TM9SF1_ENST00000556387.1_Intron|TM9SF1_ENST00000530611.1_Intron	p.Y40*	NM_001184739.1|NM_174944.3	NP_001171668.1|NP_777604.2	Q6SA08	TSSK4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	1	324	+			40			Protein kinase.		Q2TA60|Q6ZNM2	Nonsense_Mutation	SNP	ENST00000287913.6	37	c.120T>G	CCDS9618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.67|14.67	2.604908|2.604908	0.46423|0.46423	.|.	.|.	ENSG00000139908|ENSG00000139908	ENST00000555092|ENST00000339917;ENST00000287913;ENST00000428351	.|.	.|.	.|.	5.27|5.27	-1.28|-1.28	0.09318|0.09318	.|.	.|0.000000	.|0.40728	.|N	.|0.001031	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.33940	.|T	.|0.23	.|.	8.8975|8.8975	0.35474|0.35474	0.0:0.4268:0.0:0.5732|0.0:0.4268:0.0:0.5732	.|.	.|.	.|.	.|.	G|X	35|40	.|.	.|ENSP00000287913:Y40X	X|Y	+|+	1|3	0|2	TSSK4|TSSK4	23745089|23745089	0.338000|0.338000	0.24775|0.24775	0.931000|0.931000	0.37212|0.37212	0.675000|0.675000	0.39556|0.39556	-0.937000|-0.937000	0.03942|0.03942	-0.359000|-0.359000	0.08150|0.08150	0.379000|0.379000	0.24179|0.24179	TGA|TAT		0.488	TSSK4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000073139.3	NM_174944		15	824	0	0	0	1	0	15	824				
FAM122C	159091	broad.mit.edu	37	X	133948805	133948805	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:133948805A>T	ENST00000370784.4	+	2	521	c.115A>T	c.(115-117)Aat>Tat	p.N39Y	FAM122C_ENST00000370785.3_Missense_Mutation_p.N39Y|FAM122C_ENST00000414371.2_Missense_Mutation_p.N75Y|FAM122C_ENST00000445123.1_5'UTR	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	39										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TTTTAGTTTTAATTCACAGGT	0.343																																						ENST00000414371.2																			0				endometrium(2)|kidney(1)|lung(2)	5						c.(223-225)Aat>Tat		family with sequence similarity 122C							70.0	70.0	70.0					X																	133948805		2203	4300	6503	SO:0001583	missense	159091							g.chrX:133948805A>T	BC017868	CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1	Xq26.3	2008-02-05	2006-07-11		ENSG00000156500	ENSG00000156500			25202	protein-coding gene	gene with protein product						12477932	Standard	NM_138819		Approved	RP3-473B4.1	uc004exz.2	Q6P4D5	OTTHUMG00000022716	ENST00000370784.4:c.115A>T	X.37:g.133948805A>T	ENSP00000359820:p.Asn39Tyr					FAM122C_ENST00000370784.4_Missense_Mutation_p.N39Y|FAM122C_ENST00000370785.3_Missense_Mutation_p.N39Y|FAM122C_ENST00000445123.1_5'UTR	p.N75Y	NM_001170780.1|NM_001170784.1	NP_001164251.1|NP_001164255.1	Q6P4D5	F222C_HUMAN			4	396	+	Acute lymphoblastic leukemia(192;0.000127)		39					F5H036|Q8WVK9	Missense_Mutation	SNP	ENST00000370784.4	37	c.223A>T	CCDS55501.1	.	.	.	.	.	.	.	.	.	.	a	3.108	-0.183211	0.06340	.	.	ENSG00000156500	ENST00000414371;ENST00000370784;ENST00000370785	T;T;T	0.56103	0.48;0.48;0.48	5.33	1.48	0.22813	.	0.150932	0.64402	D	0.000020	T	0.58793	0.2147	L	0.49778	1.585	0.29605	N	0.847369	D;D;D;D	0.89917	1.0;0.996;0.999;0.999	D;D;D;D	0.76071	0.986;0.952;0.987;0.987	T	0.55010	-0.8207	10	0.66056	D	0.02	-4.9597	4.0562	0.09818	0.6328:0.1757:0.1915:0.0	.	75;39;39;39	F5H036;Q6P4D5;Q6P4D5-2;Q6P187	.;F222C_HUMAN;.;.	Y	75;39;39	ENSP00000402477:N75Y;ENSP00000359820:N39Y;ENSP00000359821:N39Y	ENSP00000359820:N39Y	N	+	1	0	FAM122C	133776471	0.994000	0.37717	0.001000	0.08648	0.043000	0.13939	0.822000	0.27352	-0.067000	0.12976	0.466000	0.42574	AAT		0.343	FAM122C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_138819		6	82	0	0	0	1	0	6	82				
SERPINB8	5271	broad.mit.edu	37	18	61650821	61650821	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr18:61650821T>C	ENST00000397985.2	+	5	689	c.433T>C	c.(433-435)Tca>Cca	p.S145P	SERPINB8_ENST00000397988.3_Missense_Mutation_p.S145P|SERPINB8_ENST00000542677.1_5'UTR|SERPINB8_ENST00000353706.2_Missense_Mutation_p.S145P	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	145					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				AGGTAAGATTTCAGAGGTACT	0.398																																						ENST00000397985.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17						c.(433-435)Tca>Cca		serpin peptidase inhibitor, clade B (ovalbumin), member 8							102.0	99.0	100.0					18																	61650821		2203	4300	6503	SO:0001583	missense	5271				regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61650821T>C	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"""Serine (or cysteine) peptidase inhibitors"""	8952	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase 2"""	601697	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"""	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.433T>C	18.37:g.61650821T>C	ENSP00000381072:p.Ser145Pro					SERPINB8_ENST00000353706.2_Missense_Mutation_p.S145P|SERPINB8_ENST00000397988.3_Missense_Mutation_p.S145P|SERPINB8_ENST00000542677.1_5'UTR	p.S145P	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN			5	689	+		Esophageal squamous(42;0.129)	145					B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	c.433T>C	CCDS11991.1	.	.	.	.	.	.	.	.	.	.	T	2.065	-0.414510	0.04766	.	.	ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000397988;ENST00000441827	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.65	1.87	0.25490	Serpin domain (3);	0.289069	0.36972	N	0.002301	T	0.61726	0.2370	N	0.13299	0.325	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.006	T	0.53676	-0.8405	10	0.02654	T	1	.	0.8885	0.01249	0.4097:0.1204:0.1439:0.326	.	145;145	P50452;Q8N178	SPB8_HUMAN;.	P	145	ENSP00000381072:S145P;ENSP00000331368:S145P;ENSP00000381075:S145P;ENSP00000393456:S145P	ENSP00000331368:S145P	S	+	1	0	SERPINB8	59801801	0.008000	0.16893	1.000000	0.80357	0.792000	0.44763	0.995000	0.29706	1.119000	0.41883	0.533000	0.62120	TCA		0.398	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		4	85	0	0	0	1	0	4	85				
ANGEL1	23357	broad.mit.edu	37	14	77275589	77275589	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:77275589C>T	ENST00000251089.2	-	2	574	c.462G>A	c.(460-462)tcG>tcA	p.S154S	ANGEL1_ENST00000554941.1_5'UTR	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	154										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		ACTGGGGCTCCGACTGCATGG	0.632																																						ENST00000251089.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22						c.(460-462)tcG>tcA		angel homolog 1 (Drosophila)							32.0	33.0	33.0					14																	77275589		2203	4300	6503	SO:0001819	synonymous_variant	23357							g.chr14:77275589C>T	AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.462G>A	14.37:g.77275589C>T						ANGEL1_ENST00000554941.1_5'UTR	p.S154S	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)	2	574	-			154					B4DWL7|O94859|Q8NCS9	Silent	SNP	ENST00000251089.2	37	c.462G>A	CCDS9852.1																																																																																				0.632	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305		4	39	0	0	0	1	0	4	39				
GPR179	440435	broad.mit.edu	37	17	36484110	36484110	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:36484110G>T	ENST00000342292.4	-	11	5362	c.5342C>A	c.(5341-5343)gCt>gAt	p.A1781D	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1781					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGGTCCATCAGCATCTAGAGT	0.572																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(5341-5343)gCt>gAt		G protein-coupled receptor 179							79.0	76.0	77.0					17																	36484110		1932	4149	6081	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36484110G>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5342C>A	17.37:g.36484110G>T	ENSP00000345060:p.Ala1781Asp					GPR179_ENST00000584976.1_Intron	p.A1781D	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	5362	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1781						Missense_Mutation	SNP	ENST00000342292.4	37	c.5342C>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.836390	0.32421	.	.	ENSG00000188888	ENST00000342292	T	0.52983	0.64	4.94	3.95	0.45737	.	0.584232	0.14408	N	0.321438	T	0.31702	0.0805	N	0.22421	0.69	0.09310	N	1	P	0.34462	0.454	B	0.24394	0.053	T	0.16188	-1.0411	10	0.56958	D	0.05	-0.4979	12.3923	0.55366	0.0:0.1699:0.8301:0.0	.	1781	Q6PRD1	GP179_HUMAN	D	1781	ENSP00000345060:A1781D	ENSP00000345060:A1781D	A	-	2	0	GPR179	33737636	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	0.802000	0.27069	1.256000	0.44068	0.655000	0.94253	GCT		0.572	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			161	138	1	0	2.40628e-126	1	2.91962e-126	161	138				
CACNA1G	8913	broad.mit.edu	37	17	48677037	48677037	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:48677037G>T	ENST00000359106.5	+	17	3507	c.3507G>T	c.(3505-3507)aaG>aaT	p.K1169N	CACNA1G_ENST00000505165.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.K1146N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.K1146N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.K1146N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.K1146N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000352832.5_Missense_Mutation_p.K1146N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.K1169N	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1169					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGAGGCCAAGAGTTCCTTTG	0.642																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(3436-3438)aaG>aaT		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						30.0	39.0	36.0					17																	48677037		2088	4209	6297	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48677037G>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.3507G>T	17.37:g.48677037G>T	ENSP00000352011:p.Lys1169Asn					CACNA1G_ENST00000442258.2_Missense_Mutation_p.K1146N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.K1146N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.K1146N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.K1146N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.K1169N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.K1169N	p.K1146N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		16	3810	+	Breast(11;6.7e-17)		1169					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.3438G>T	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	16.05	3.013533	0.54468	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97041	-4.09;-4.09;-4.22;-4.04;-4.08;-4.09;-4.11;-4.17;-4.16;-4.16;-4.18;-4.04;-4.06;-4.12;-4.06;-4.03;-4.1;-4.05;-4.04;-4.1;-4.09;-4.06;-4.1;-4.04;-4.1;-4.11	4.47	3.42	0.39159	.	0.438355	0.22661	N	0.057200	D	0.96150	0.8745	L	0.29908	0.895	0.38270	D	0.942113	D;P;P;D;D;D;D;D;D;P;D;P;P;D;D;B;P;D;D;B;D;P;D;B;P;D	0.67145	0.994;0.645;0.893;0.991;0.992;0.995;0.995;0.986;0.995;0.61;0.973;0.758;0.645;0.973;0.996;0.243;0.949;0.996;0.974;0.354;0.993;0.645;0.992;0.389;0.808;0.97	D;B;B;D;P;P;D;P;D;B;P;P;B;P;D;B;P;D;P;B;D;P;P;B;B;P	0.79108	0.985;0.368;0.427;0.992;0.765;0.882;0.989;0.765;0.989;0.277;0.585;0.572;0.368;0.585;0.918;0.065;0.694;0.925;0.722;0.101;0.977;0.468;0.711;0.147;0.242;0.839	D	0.94970	0.8116	10	0.52906	T	0.07	.	7.0814	0.25234	0.2152:0.0:0.7848:0.0	.	1146;1169;1169;1169;1169;1169;1169;1169;1169;1169;1169;1146;1169;1169;1169;1169;1169;1146;1169;1146;1146;1146;1146;1169;1146;1169	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	N	1146;1146;1169;1146;1146;1146;1169;1169;1146;1169;1169;1169;1169;1169;1169;1146;1169;1169;1169;1169;1146;1169;1169;1169;1169;1169	ENSP00000353990:K1146N;ENSP00000339302:K1146N;ENSP00000392390:K1169N;ENSP00000347078:K1146N;ENSP00000409759:K1146N;ENSP00000425522:K1146N;ENSP00000426261:K1169N;ENSP00000425451:K1169N;ENSP00000422407:K1146N;ENSP00000426814:K1169N;ENSP00000427238:K1169N;ENSP00000423112:K1169N;ENSP00000420918:K1169N;ENSP00000426172:K1169N;ENSP00000423045:K1169N;ENSP00000427173:K1146N;ENSP00000426098:K1169N;ENSP00000425698:K1169N;ENSP00000426232:K1169N;ENSP00000423317:K1169N;ENSP00000350979:K1146N;ENSP00000352011:K1169N;ENSP00000414388:K1169N;ENSP00000423155:K1169N;ENSP00000422268:K1169N;ENSP00000421518:K1169N	ENSP00000339302:K1146N	K	+	3	2	CACNA1G	46032036	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	2.152000	0.42272	2.322000	0.78497	0.561000	0.74099	AAG		0.642	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		5	22	1	0	5.9392e-07	1	6.41504e-07	5	22				
TG	7038	broad.mit.edu	37	8	133931619	133931619	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:133931619A>T	ENST00000220616.4	+	21	4418		c.e21-1		TG_ENST00000542445.1_5'Flank|TG_ENST00000377869.1_Splice_Site	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin						hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTTTTTTTCTAGTTAAGTGTC	0.418																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.e21-1		thyroglobulin							71.0	65.0	67.0					8																	133931619		2203	4300	6503	SO:0001630	splice_region_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133931619A>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4379-1A>T	8.37:g.133931619A>T						TG_ENST00000377869.1_Splice_Site		NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	21	4418	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)						O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Splice_Site	SNP	ENST00000220616.4	37		CCDS34944.1	.	.	.	.	.	.	.	.	.	.	A	9.738	1.164036	0.21538	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3216	0.54987	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TG	134000801	1.000000	0.71417	0.712000	0.30502	0.161000	0.22273	5.922000	0.70036	2.225000	0.72522	0.533000	0.62120	.		0.418	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	Intron	6	90	0	0	0	1	0	6	90				
BPIFC	254240	broad.mit.edu	37	22	32833840	32833840	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:32833840T>A	ENST00000397452.1	-	8	766		c.e8-2		BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site|BPIFC_ENST00000432451.2_Splice_Site			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C							extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TGGTTAAAACTAAATAACCAA	0.303																																						ENST00000397452.1																			0											c.e8-2		BPI fold containing family C							62.0	60.0	61.0					22																	32833840		2203	4300	6503	SO:0001630	splice_region_variant	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32833840T>A	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.656-2A>T	22.37:g.32833840T>A						BPIFC_ENST00000432451.2_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site				Q8NFQ6	BPIL2_HUMAN			8	766	-								A2RRF1	Splice_Site	SNP	ENST00000397452.1	37		CCDS13906.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.868262	0.72065	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000432451	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5975	0.56478	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BPIFC	31163840	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	4.171000	0.58236	2.289000	0.77006	0.533000	0.62120	.		0.303	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932	Intron	5	69	0	0	0	1	0	5	69				
SH2D2A	9047	broad.mit.edu	37	1	156779265	156779265	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:156779265C>G	ENST00000368199.3	-	7	885	c.732G>C	c.(730-732)agG>agC	p.R244S	SH2D2A_ENST00000368198.3_Missense_Mutation_p.R226S|SH2D2A_ENST00000392306.2_Missense_Mutation_p.R254S	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	244	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGGCTTGGGCCTGAGCAGCT	0.657																																						ENST00000392306.2																			0				endometrium(1)|large_intestine(2)|lung(15)	18						c.(760-762)agG>agC		SH2 domain containing 2A							46.0	53.0	51.0					1																	156779265		2203	4300	6503	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156779265C>G	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.732G>C	1.37:g.156779265C>G	ENSP00000357182:p.Arg244Ser					SH2D2A_ENST00000368199.3_Missense_Mutation_p.R244S|SH2D2A_ENST00000368198.3_Missense_Mutation_p.R226S	p.R254S	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN			7	901	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		244			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.762G>C	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656080	0.47467	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.62364	0.07;0.03;0.51	3.92	2.64	0.31445	.	1.165750	0.06025	N	0.652101	T	0.49626	0.1568	L	0.32530	0.975	0.25562	N	0.986985	D;D;D	0.76494	0.999;0.997;0.997	D;P;P	0.67382	0.951;0.895;0.895	T	0.36286	-0.9754	10	0.30854	T	0.27	-14.9673	5.4464	0.16537	0.0:0.6663:0.0:0.3337	.	254;226;244	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	S	244;226;254	ENSP00000357182:R244S;ENSP00000357181:R226S;ENSP00000376123:R254S	ENSP00000357181:R226S	R	-	3	2	SH2D2A	155045889	0.935000	0.31712	0.998000	0.56505	0.529000	0.34654	-0.017000	0.12590	0.642000	0.30620	0.555000	0.69702	AGG		0.657	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		10	286	0	0	0	1	0	10	286				
PSD3	23362	broad.mit.edu	37	8	18725291	18725291	+	Silent	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:18725291T>G	ENST00000327040.8	-	4	1629	c.1527A>C	c.(1525-1527)gcA>gcC	p.A509A	PSD3_ENST00000523619.1_Silent_p.A444A|PSD3_ENST00000440756.2_Silent_p.A509A	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	509					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TGCCACCATCTGCAGACACAC	0.522																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1525-1527)gcA>gcC		pleckstrin and Sec7 domain containing 3							189.0	188.0	188.0					8																	18725291		2135	4246	6381	SO:0001819	synonymous_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18725291T>G	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.1527A>C	8.37:g.18725291T>G						PSD3_ENST00000523619.1_Silent_p.A444A|PSD3_ENST00000327040.8_Silent_p.A509A	p.A509A			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	4	1629	-			509					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Silent	SNP	ENST00000327040.8	37	c.1527A>C	CCDS43720.1																																																																																				0.522	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		255	779	0	0	0	1	0	255	779				
FRMD4A	55691	broad.mit.edu	37	10	13735817	13735817	+	Intron	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:13735817G>T	ENST00000357447.2	-	15	1486				FRMD4A_ENST00000358621.4_Intron|FRMD4A_ENST00000378503.1_Intron|FRMD4A_ENST00000342409.2_Missense_Mutation_p.Q416K|FRMD4A_ENST00000492155.1_5'UTR	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A						establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CTCCCCAGCTGCAGCTCTCCC	0.612																																						ENST00000342409.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(1246-1248)Cag>Aag		FERM domain containing 4A																																				SO:0001627	intron_variant	55691					cytoplasm|cytoskeleton	binding	g.chr10:13735817G>T	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1117+80C>A	10.37:g.13735817G>T						FRMD4A_ENST00000358621.4_Intron|FRMD4A_ENST00000357447.2_Intron|FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000378503.1_Intron	p.Q416K			Q9P2Q2	FRM4A_HUMAN			14	1626	-			897					A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.1246C>A	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244228	0.22796	.	.	ENSG00000151474	ENST00000342409	D	0.83591	-1.74	3.24	-2.9	0.05648	.	.	.	.	.	T	0.67618	0.2912	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.54470	-0.8289	8	0.72032	D	0.01	.	0.2244	0.00172	0.2384:0.2669:0.2208:0.2739	.	416	Q5T378	.	K	416	ENSP00000344237:Q416K	ENSP00000344237:Q416K	Q	-	1	0	FRMD4A	13775823	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.191000	0.17076	-0.715000	0.04968	0.561000	0.74099	CAG		0.612	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		19	75	1	0	1.50039e-11	1	1.71204e-11	19	75				
RICTOR	253260	broad.mit.edu	37	5	38945658	38945658	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:38945658C>G	ENST00000357387.3	-	34	4598	c.4568G>C	c.(4567-4569)tGt>tCt	p.C1523S	RICTOR_ENST00000296782.5_Missense_Mutation_p.C1547S	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AATACAGACACAATAAAGGCA	0.403																																						ENST00000357387.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(4567-4569)tGt>tCt		RPTOR independent companion of MTOR, complex 2							161.0	145.0	151.0					5																	38945658		2203	4300	6503	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38945658C>G		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.4568G>C	5.37:g.38945658C>G	ENSP00000349959:p.Cys1523Ser					RICTOR_ENST00000296782.5_Missense_Mutation_p.C1547S	p.C1523S	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN			34	4598	-	all_lung(31;0.000396)		1523						Missense_Mutation	SNP	ENST00000357387.3	37	c.4568G>C	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986732	0.93106	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.66280	-0.15;-0.2	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.79281	0.4419	M	0.68593	2.085	0.80722	D	1	D;D	0.61080	0.989;0.989	D;D	0.75020	0.985;0.985	T	0.79478	-0.1787	10	0.87932	D	0	-13.4599	20.3242	0.98691	0.0:1.0:0.0:0.0	.	1523;1547	Q6R327;Q6R327-3	RICTR_HUMAN;.	S	1523;1547	ENSP00000349959:C1523S;ENSP00000296782:C1547S	ENSP00000296782:C1547S	C	-	2	0	RICTOR	38981415	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.903000	0.75703	2.882000	0.98803	0.655000	0.94253	TGT		0.403	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		20	53	0	0	0	1	0	20	53				
TACC2	10579	broad.mit.edu	37	10	123984267	123984267	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:123984267A>G	ENST00000369005.1	+	12	7913	c.7573A>G	c.(7573-7575)Att>Gtt	p.I2525V	TACC2_ENST00000515273.1_Missense_Mutation_p.I2529V|TACC2_ENST00000360561.3_Missense_Mutation_p.I603V|TACC2_ENST00000358010.1_Missense_Mutation_p.I671V|TACC2_ENST00000515603.1_Missense_Mutation_p.I2480V|TACC2_ENST00000369001.1_Missense_Mutation_p.I229V|TACC2_ENST00000369004.3_Missense_Mutation_p.I615V|TACC2_ENST00000368999.1_Missense_Mutation_p.I615V|TACC2_ENST00000513429.1_Missense_Mutation_p.I671V|TACC2_ENST00000260733.3_Missense_Mutation_p.I603V|TACC2_ENST00000334433.3_Missense_Mutation_p.I2525V|TACC2_ENST00000369000.1_Missense_Mutation_p.I225V|TACC2_ENST00000453444.2_Missense_Mutation_p.I2529V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2525					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTCCTATGAAATTGAATATAT	0.443																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(7573-7575)Att>Gtt		transforming, acidic coiled-coil containing protein 2							132.0	153.0	146.0					10																	123984267		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123984267A>G	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7573A>G	10.37:g.123984267A>G	ENSP00000358001:p.Ile2525Val					TACC2_ENST00000515273.1_Missense_Mutation_p.I2529V|TACC2_ENST00000260733.3_Missense_Mutation_p.I603V|TACC2_ENST00000369001.1_Missense_Mutation_p.I229V|TACC2_ENST00000334433.3_Missense_Mutation_p.I2525V|TACC2_ENST00000515603.1_Missense_Mutation_p.I2480V|TACC2_ENST00000360561.3_Missense_Mutation_p.I603V|TACC2_ENST00000358010.1_Missense_Mutation_p.I671V|TACC2_ENST00000513429.1_Missense_Mutation_p.I671V|TACC2_ENST00000369000.1_Missense_Mutation_p.I225V|TACC2_ENST00000368999.1_Missense_Mutation_p.I615V|TACC2_ENST00000369004.3_Missense_Mutation_p.I615V|TACC2_ENST00000453444.2_Missense_Mutation_p.I2529V	p.I2525V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			12	7913	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2525					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.7573A>G	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.277758	0.80692	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000496913;ENST00000508411	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.27256	3.56;3.19;3.6;3.53;3.56;3.19;3.6;1.68;1.68;3.03;2.99;2.94;3.06;2.65;1.87	5.5	5.5	0.81552	.	0.000000	0.37393	N	0.002117	T	0.44603	0.1301	L	0.53249	1.67	0.45676	D	0.998595	D;D;P;D;D;D;D;D;D;D	0.71674	0.998;0.983;0.943;0.992;0.983;0.995;0.99;0.99;0.99;0.992	D;D;D;D;D;D;D;D;D;D	0.81914	0.995;0.977;0.946;0.99;0.977;0.99;0.99;0.99;0.99;0.992	T	0.19031	-1.0318	10	0.20046	T	0.44	-4.5936	15.6011	0.76626	1.0:0.0:0.0:0.0	.	620;2529;615;2480;2529;603;603;225;671;2525	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;.;TACC2_HUMAN	V	2525;671;2529;2480;2525;671;2529;2515;229;225;603;615;615;603;620;260;136	ENSP00000358001:I2525V;ENSP00000425062:I671V;ENSP00000424467:I2529V;ENSP00000427618:I2480V;ENSP00000334280:I2525V;ENSP00000350701:I671V;ENSP00000395048:I2529V;ENSP00000357997:I229V;ENSP00000357996:I225V;ENSP00000353763:I603V;ENSP00000357995:I615V;ENSP00000422815:I615V;ENSP00000260733:I603V;ENSP00000420967:I620V;ENSP00000422725:I260V	ENSP00000260733:I603V	I	+	1	0	TACC2	123974257	1.000000	0.71417	0.990000	0.47175	0.993000	0.82548	7.603000	0.82811	2.078000	0.62432	0.533000	0.62120	ATT		0.443	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			7	154	0	0	0	1	0	7	154				
IQGAP3	128239	broad.mit.edu	37	1	156509711	156509711	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:156509711G>C	ENST00000361170.2	-	24	2821	c.2811C>G	c.(2809-2811)gaC>gaG	p.D937E	IQGAP3_ENST00000498755.1_5'Flank	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	937					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTTCTGCTTGTCCAGAACCA	0.498																																						ENST00000361170.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(2809-2811)gaC>gaG		IQ motif containing GTPase activating protein 3							192.0	175.0	181.0					1																	156509711		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156509711G>C	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.2811C>G	1.37:g.156509711G>C	ENSP00000354451:p.Asp937Glu						p.D937E	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			24	2821	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		937					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.2811C>G	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187233	0.38609	.	.	ENSG00000183856	ENST00000361170	T	0.02472	4.28	4.83	2.96	0.34315	.	0.056365	0.64402	D	0.000001	T	0.02418	0.0074	N	0.25647	0.755	0.38982	D	0.958972	D	0.64830	0.994	D	0.72625	0.978	T	0.59408	-0.7460	10	0.32370	T	0.25	-27.326	6.716	0.23304	0.2858:0.0:0.7142:0.0	.	937	Q86VI3	IQGA3_HUMAN	E	937	ENSP00000354451:D937E	ENSP00000354451:D937E	D	-	3	2	IQGAP3	154776335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.730000	0.55006	0.628000	0.30357	0.551000	0.68910	GAC		0.498	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		84	219	0	0	0	1	0	84	219				
NUMA1	4926	broad.mit.edu	37	11	71733393	71733393	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:71733393T>C	ENST00000393695.3	-	7	695	c.364A>G	c.(364-366)Aaa>Gaa	p.K122E	NUMA1_ENST00000351960.6_Missense_Mutation_p.K122E|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.K122E	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						ACCTGAATTTTATATTCAAAC	0.483			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(364-366)Aaa>Gaa		nuclear mitotic apparatus protein 1							171.0	177.0	175.0					11																	71733393		2200	4293	6493	SO:0001583	missense	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71733393T>C	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.364A>G	11.37:g.71733393T>C	ENSP00000377298:p.Lys122Glu					NUMA1_ENST00000351960.6_Missense_Mutation_p.K122E|NUMA1_ENST00000358965.6_Missense_Mutation_p.K122E	p.K122E	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			7	695	-			122						Missense_Mutation	SNP	ENST00000393695.3	37	c.364A>G	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.821538	0.71028	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000542977;ENST00000537217;ENST00000544238;ENST00000543937;ENST00000543009;ENST00000537930;ENST00000544129;ENST00000535947	T;T;T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.03	3.9	0.45041	.	0.232422	0.36303	N	0.002661	T	0.32734	0.0839	L	0.55481	1.735	0.22629	N	0.998914	B;P;P;B;B;B	0.40731	0.204;0.728;0.728;0.447;0.287;0.03	B;B;B;B;B;B	0.33521	0.165;0.164;0.164;0.117;0.124;0.055	T	0.28650	-1.0037	10	0.52906	T	0.07	.	8.2624	0.31793	0.0:0.1672:0.0:0.8328	.	122;122;122;122;122;122	F5H6Y5;F5H4J1;A8K394;Q14980-2;Q14980;Q9BTE9	.;.;.;.;NUMA1_HUMAN;.	E	122	ENSP00000260051:K122E;ENSP00000351851:K122E;ENSP00000377298:K122E;ENSP00000444880:K122E;ENSP00000442936:K122E;ENSP00000442761:K122E;ENSP00000439759:K122E;ENSP00000438821:K122E;ENSP00000438589:K122E;ENSP00000439092:K122E;ENSP00000444175:K122E	ENSP00000260051:K122E	K	-	1	0	NUMA1	71411041	0.997000	0.39634	0.998000	0.56505	0.994000	0.84299	0.865000	0.27940	1.054000	0.40438	0.533000	0.62120	AAA		0.483	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			77	127	0	0	0	1	0	77	127				
SLC22A1	6580	broad.mit.edu	37	6	160560786	160560786	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:160560786C>T	ENST00000366963.4	+	7	1310	c.1163C>T	c.(1162-1164)cCg>cTg	p.P388L	SLC22A1_ENST00000324965.4_Missense_Mutation_p.P388L|SLC22A1_ENST00000457470.2_Missense_Mutation_p.P388L	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	388					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	GTCGAAATCCCGGGGGCCTTC	0.587																																						ENST00000366963.4																		SLC22A1/CUTA(2)	0				breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21						c.(1162-1164)cCg>cTg		solute carrier family 22 (organic cation transporter), member 1							60.0	62.0	61.0					6																	160560786		2203	4300	6503	SO:0001583	missense	6580					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding	g.chr6:160560786C>T	U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"""Solute carriers"""	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.1163C>T	6.37:g.160560786C>T	ENSP00000355930:p.Pro388Leu					SLC22A1_ENST00000324965.4_Missense_Mutation_p.P388L|SLC22A1_ENST00000457470.2_Missense_Mutation_p.P388L	p.P388L	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	7	1310	+		Breast(66;0.000776)|Ovarian(120;0.00556)	388					A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	Missense_Mutation	SNP	ENST00000366963.4	37	c.1163C>T	CCDS5274.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289601	0.59976	.	.	ENSG00000175003	ENST00000366963;ENST00000324965;ENST00000457470	T;T;T	0.54675	0.56;0.56;0.56	5.08	5.08	0.68730	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.76702	0.4024	M	0.92833	3.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83449	0.0047	10	0.87932	D	0	.	18.4653	0.90752	0.0:1.0:0.0:0.0	.	388;388	O15245-2;O15245	.;S22A1_HUMAN	L	388	ENSP00000355930:P388L;ENSP00000318103:P388L;ENSP00000409557:P388L	ENSP00000318103:P388L	P	+	2	0	SLC22A1	160480776	1.000000	0.71417	0.002000	0.10522	0.007000	0.05969	7.082000	0.76851	2.346000	0.79739	0.561000	0.74099	CCG		0.587	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042938.2			4	70	0	0	0	1	0	4	70				
RP11-478B9.1	0	broad.mit.edu	37	12	45457510	45457510	+	RNA	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:45457510C>T	ENST00000548424.1	+	0	448																											TTCTCTGCTCCACTATTGAGA	0.488																																						ENST00000548424.1																			0																																																			0							g.chr12:45457510C>T																													12.37:g.45457510C>T														0	448	+									RNA	SNP	ENST00000548424.1	37																																																																																						0.488	RP11-478B9.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000404811.1			6	119	0	0	0	1	0	6	119				
KPNA4	3840	broad.mit.edu	37	3	160285898	160285898	+	5'Flank	SNP	C	C	T	rs4679895	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:160285898C>T	ENST00000334256.4	-	0	0				KPNA4_ENST00000469804.1_5'Flank|KRT8P12_ENST00000468527.1_RNA	NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)						cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ACTCCAACATCCAGGCTGTAT	0.562													c|||	1434	0.286342	0.1725	0.3732	5008	,	,		21214	0.1825		0.4443	False		,,,				2504	0.3231					ENST00000468527.1																			0																																																	SO:0001631	upstream_gene_variant	90133							g.chr3:160285898C>T	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033		3.37:g.160285898C>T	Exception_encountered													0	909	+								A8K4S6|D3DNM2|O00190	RNA	SNP	ENST00000334256.4	37		CCDS3191.1																																																																																				0.562	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		3	59	0	0	0	1	0	3	59				
NEU1	4758	broad.mit.edu	37	6	31829196	31829196	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:31829196G>A	ENST00000375631.4	-	3	513	c.384C>T	c.(382-384)gtC>gtT	p.V128V		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	128					glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	CCCCATCATTGACAATGAACG	0.493																																						ENST00000375631.4																			0				kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						c.(382-384)gtC>gtT		sialidase 1 (lysosomal sialidase)	Oseltamivir(DB00198)|Zanamivir(DB00558)						62.0	66.0	65.0					6																	31829196		1510	2708	4218	SO:0001819	synonymous_variant	4758					cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding	g.chr6:31829196G>A	AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.384C>T	6.37:g.31829196G>A							p.V128V	NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN			3	513	-			128						Silent	SNP	ENST00000375631.4	37	c.384C>T	CCDS4723.1																																																																																				0.493	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076616.2			93	46	0	0	0	1	0	93	46				
FAP	2191	broad.mit.edu	37	2	163044875	163044875	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:163044875T>A	ENST00000188790.4	-	20	1827		c.e20-2		FAP_ENST00000443424.1_Splice_Site	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.?(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CCACCATACCTAAAGGAAAAA	0.383																																						ENST00000188790.4																			1	Unknown(1)	p.?(1)	ovary(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.e20-2		fibroblast activation protein, alpha							58.0	56.0	57.0					2																	163044875		2203	4299	6502	SO:0001630	splice_region_variant	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163044875T>A	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1620-2A>T	2.37:g.163044875T>A						FAP_ENST00000443424.1_Splice_Site		NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN			20	1827	-									Splice_Site	SNP	ENST00000188790.4	37		CCDS33311.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.641191	0.67244	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAP	162753121	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	7.325000	0.79124	2.326000	0.78906	0.533000	0.62120	.		0.383	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2		Intron	5	78	0	0	0	1	0	5	78				
SLC43A3	29015	broad.mit.edu	37	11	57182112	57182112	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:57182112A>T	ENST00000395123.2	-	11	1340	c.1036T>A	c.(1036-1038)Tac>Aac	p.Y346N	SLC43A3_ENST00000533524.1_Missense_Mutation_p.Y359N|SLC43A3_ENST00000529554.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000352187.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000395124.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000528098.1_5'Flank	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	346					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TCCTTCTGGTACTTCTGTTTA	0.547																																						ENST00000395123.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(1036-1038)Tac>Aac		solute carrier family 43, member 3							161.0	158.0	159.0					11																	57182112		2201	4296	6497	SO:0001583	missense	29015				transmembrane transport	integral to membrane		g.chr11:57182112A>T	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.1036T>A	11.37:g.57182112A>T	ENSP00000378555:p.Tyr346Asn					SLC43A3_ENST00000533524.1_Missense_Mutation_p.Y359N|SLC43A3_ENST00000529554.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000352187.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000395124.1_Missense_Mutation_p.Y346N	p.Y346N	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN			11	1340	-			346					B4DNR8|E7EQD2|Q9NSS4	Missense_Mutation	SNP	ENST00000395123.2	37	c.1036T>A	CCDS7956.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.276931	0.59758	.	.	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	4.97	4.97	0.65823	Major facilitator superfamily domain, general substrate transporter (1);	0.201525	0.44285	D	0.000472	T	0.33352	0.0860	L	0.56769	1.78	0.34914	D	0.74777	B;P;B	0.38745	0.188;0.645;0.075	B;P;B	0.44422	0.166;0.449;0.102	T	0.45366	-0.9266	10	0.28530	T	0.3	-13.7562	8.1888	0.31354	0.8217:0.0:0.0:0.1783	.	359;346;346	E7EQD2;Q8NBI5;A8K2X6	.;S43A3_HUMAN;.	N	346;346;346;346;359	ENSP00000378555:Y346N;ENSP00000378556:Y346N;ENSP00000337561:Y346N;ENSP00000436254:Y346N;ENSP00000434515:Y359N	ENSP00000337561:Y346N	Y	-	1	0	SLC43A3	56938688	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	3.933000	0.56545	1.875000	0.54330	0.379000	0.24179	TAC		0.547	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		19	1042	0	0	0	1	0	19	1042				
TNFRSF11B	4982	broad.mit.edu	37	8	119938760	119938760	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:119938760G>C	ENST00000297350.4	-	4	1168	c.790C>G	c.(790-792)Caa>Gaa	p.Q264E		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	264	Death 1.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			ACTATATCTTGGTCTTTGTTT	0.358																																						ENST00000297350.4																			0				breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25						c.(790-792)Caa>Gaa		tumor necrosis factor receptor superfamily, member 11b							211.0	202.0	205.0					8																	119938760		2203	4299	6502	SO:0001583	missense	4982				apoptosis|skeletal system development		cytokine activity|receptor activity	g.chr8:119938760G>C	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.790C>G	8.37:g.119938760G>C	ENSP00000297350:p.Gln264Glu						p.Q264E	NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	STAD - Stomach adenocarcinoma(47;0.00193)		4	1168	-	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		264			Death 1.		B2R9A8|O60236|Q53FX6|Q9UHP4	Missense_Mutation	SNP	ENST00000297350.4	37	c.790C>G	CCDS6326.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.210254	0.58343	.	.	ENSG00000164761	ENST00000297350	D	0.93307	-3.2	5.73	5.73	0.89815	DEATH-like (2);	0.145183	0.47093	D	0.000244	D	0.89904	0.6850	L	0.61218	1.895	0.39016	D	0.959648	P	0.39782	0.688	B	0.27262	0.078	D	0.89910	0.4051	9	.	.	.	-14.0254	14.7188	0.69289	0.0:0.0:0.8553:0.1447	.	264	O00300	TR11B_HUMAN	E	264	ENSP00000297350:Q264E	.	Q	-	1	0	TNFRSF11B	120007941	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	6.310000	0.72830	2.721000	0.93114	0.655000	0.94253	CAA		0.358	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			43	100	0	0	0	1	0	43	100				
LDHAL6B	92483	broad.mit.edu	37	15	59499808	59499808	+	Silent	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:59499808T>A	ENST00000307144.4	+	1	767	c.669T>A	c.(667-669)atT>atA	p.I223I	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	223					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						GTTTCTTGATTGGACAAAAGC	0.438																																						ENST00000307144.4																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						c.(667-669)atT>atA		lactate dehydrogenase A-like 6B	NADH(DB00157)						77.0	78.0	78.0					15																	59499808		2191	4290	6481	SO:0001819	synonymous_variant	92483				glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	g.chr15:59499808T>A	AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"""lactate dehydrogenase A-like 6"""	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.669T>A	15.37:g.59499808T>A						MYO1E_ENST00000288235.4_Intron	p.I223I	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN			1	767	+			223					Q6DUY4|Q96LI2	Silent	SNP	ENST00000307144.4	37	c.669T>A	CCDS10171.1																																																																																				0.438	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195		20	47	0	0	0	1	0	20	47				
TTN	7273	broad.mit.edu	37	2	179584535	179584535	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:179584535G>A	ENST00000591111.1	-	80	22957	c.22733C>T	c.(22732-22734)cCc>cTc	p.P7578L	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P6651L|TTN_ENST00000589042.1_Missense_Mutation_p.P7895L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	13132	Ig-like 58.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGGGTTCGGGCTTCTCTAT	0.398																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(23683-23685)cCc>cTc		titin							97.0	86.0	89.0					2																	179584535		1859	4099	5958	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179584535G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22733C>T	2.37:g.179584535G>A	ENSP00000465570:p.Pro7578Leu					TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P7578L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P6651L|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron	p.P7895L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		82	23908	-			7578			Ig-like 61.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.23684C>T		.	.	.	.	.	.	.	.	.	.	G	12.29	1.893462	0.33442	.	.	ENSG00000155657	ENST00000342992	T	0.53857	0.6	6.08	6.08	0.98989	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53706	0.1813	L	0.49350	1.555	0.80722	D	1	B	0.18166	0.026	B	0.19946	0.027	T	0.48917	-0.8992	9	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	7578	Q8WZ42	TITIN_HUMAN	L	6651	ENSP00000343764:P6651L	ENSP00000343764:P6651L	P	-	2	0	TTN	179292780	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.062000	0.89475	2.894000	0.99253	0.655000	0.94253	CCC		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	53	0	0	0	1	0	15	53				
FAM192A	80011	broad.mit.edu	37	16	57207783	57207783	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:57207783T>A	ENST00000309137.8	-	2	244		c.e2-2		FAM192A_ENST00000566077.1_Intron|FAM192A_ENST00000569266.1_Splice_Site|FAM192A_ENST00000564108.1_Splice_Site|FAM192A_ENST00000567439.1_Splice_Site|FAM192A_ENST00000389447.5_5'UTR	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A							nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						ACAACCAATCTACaaaacaaa	0.368																																						ENST00000309137.8																			0				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						c.e2-2		family with sequence similarity 192, member A							110.0	97.0	101.0					16																	57207783		1833	4089	5922	SO:0001630	splice_region_variant	80011					nucleus		g.chr16:57207783T>A		CCDS42168.1	16q13	2009-08-19	2009-08-19	2009-08-19		ENSG00000172775			29856	protein-coding gene	gene with protein product	"""NEFA interacting nuclear protein NIP30"""		"""chromosome 16 open reading frame 94"""	C16orf94		12477932	Standard	NM_024946		Approved	NIP30	uc021tiy.1	Q9GZU8		ENST00000309137.8:c.15-2A>T	16.37:g.57207783T>A						FAM192A_ENST00000389447.5_5'UTR|FAM192A_ENST00000569266.1_Splice_Site|FAM192A_ENST00000564108.1_Splice_Site|FAM192A_ENST00000566077.1_Intron|FAM192A_ENST00000567439.1_Splice_Site		NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN			2	244	-									Splice_Site	SNP	ENST00000309137.8	37		CCDS42168.1																																																																																				0.368	FAM192A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433022.2	NM_024946	Intron	4	163	0	0	0	1	0	4	163				
SLC3A2	6520	broad.mit.edu	37	11	62649409	62649409	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:62649409G>A	ENST00000377890.2	+	5	940	c.772G>A	c.(772-774)Ggc>Agc	p.G258S	SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377889.2_Missense_Mutation_p.G196S|SLC3A2_ENST00000535296.1_Missense_Mutation_p.G227S|SLC3A2_ENST00000377892.1_Missense_Mutation_p.G289S|SLC3A2_ENST00000338663.7_Missense_Mutation_p.G157S|SLC3A2_ENST00000377891.2_Missense_Mutation_p.G259S	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	258					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GAAGGTGAAGGGCCTTGTGCT	0.542																																						ENST00000377892.1																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						c.(865-867)Ggc>Agc		solute carrier family 3 (amino acid transporter heavy chain), member 2							113.0	106.0	108.0					11																	62649409		2201	4298	6499	SO:0001583	missense	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62649409G>A		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.772G>A	11.37:g.62649409G>A	ENSP00000367122:p.Gly258Ser					SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000377889.2_Missense_Mutation_p.G196S|SLC3A2_ENST00000377890.2_Missense_Mutation_p.G258S|SLC3A2_ENST00000377891.2_Missense_Mutation_p.G259S|SLC3A2_ENST00000535296.1_Missense_Mutation_p.G227S|SLC3A2_ENST00000338663.7_Missense_Mutation_p.G157S	p.G289S			P08195	4F2_HUMAN			6	1089	+			258					Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	c.865G>A	CCDS8039.2	.	.	.	.	.	.	.	.	.	.	G	36	5.919692	0.97105	.	.	ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296;ENST00000338663;ENST00000539458;ENST00000422606	D;D;D;D;D;D;D	0.98234	-4.81;-4.81;-4.81;-4.81;-4.81;-4.81;-4.81	5.53	5.53	0.82687	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.048048	0.85682	D	0.000000	D	0.98535	0.9511	L	0.57536	1.79	0.80722	D	1	D;P;D;D;P	0.76494	0.999;0.936;0.99;0.976;0.941	D;P;D;P;P	0.73380	0.98;0.816;0.96;0.844;0.892	D	0.99643	1.0989	10	0.62326	D	0.03	-24.5869	16.9874	0.86344	0.0:0.0:1.0:0.0	.	196;227;258;157;289	P08195-3;F5GZS6;P08195;P08195-2;P08195-4	.;.;4F2_HUMAN;.;.	S	289;259;258;259;196;227;157;113;139	ENSP00000367124:G289S;ENSP00000367123:G259S;ENSP00000367122:G258S;ENSP00000367121:G196S;ENSP00000444236:G227S;ENSP00000340815:G157S;ENSP00000438032:G113S	ENSP00000340815:G157S	G	+	1	0	SLC3A2	62405985	1.000000	0.71417	0.995000	0.50966	0.835000	0.47333	6.065000	0.71176	2.605000	0.88082	0.655000	0.94253	GGC		0.542	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		30	180	0	0	0	1	0	30	180				
PEX11A	8800	broad.mit.edu	37	15	90226800	90226800	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:90226800T>A	ENST00000300056.3	-	3	701	c.552A>T	c.(550-552)ttA>ttT	p.L184F	PEX11A_ENST00000559170.1_3'UTR|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000561257.1_Missense_Mutation_p.L153F	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	184					brown fat cell differentiation (GO:0050873)|cellular lipid metabolic process (GO:0044255)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			GAGATCGGAATAAAAGAAGTA	0.478																																						ENST00000300056.3																			0				endometrium(2)|large_intestine(2)|lung(3)	7						c.(550-552)ttA>ttT		peroxisomal biogenesis factor 11 alpha							222.0	229.0	227.0					15																	90226800		2200	4299	6499	SO:0001583	missense	8800				cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane		g.chr15:90226800T>A	AF093668	CCDS10354.1, CCDS61751.1	15q	2008-08-26	2008-08-26		ENSG00000166821	ENSG00000166821			8852	protein-coding gene	gene with protein product		603866	"""peroxisomal biogenesis factor 11A"""			9792670	Standard	NM_003847		Approved	PEX11-ALPHA, MGC119947, MGC138534	uc002boi.4	O75192	OTTHUMG00000149809	ENST00000300056.3:c.552A>T	15.37:g.90226800T>A	ENSP00000300056:p.Leu184Phe					PEX11A_ENST00000559170.1_3'UTR|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000561257.1_Missense_Mutation_p.L153F	p.L184F	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		3	701	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		184					B4DV88	Missense_Mutation	SNP	ENST00000300056.3	37	c.552A>T	CCDS10354.1	.	.	.	.	.	.	.	.	.	.	T	13.70	2.314241	0.40996	.	.	ENSG00000166821	ENST00000300056	T	0.52983	0.64	5.75	-1.25	0.09405	.	0.000000	0.85682	D	0.000000	T	0.55386	0.1917	M	0.80746	2.51	0.80722	D	1	D	0.61080	0.989	P	0.60012	0.867	T	0.53143	-0.8480	10	0.49607	T	0.09	-4.466	2.5435	0.04731	0.1274:0.287:0.3913:0.1943	.	184	O75192	PX11A_HUMAN	F	184	ENSP00000300056:L184F	ENSP00000300056:L184F	L	-	3	2	PEX11A	88027804	0.000000	0.05858	0.137000	0.22149	0.043000	0.13939	-2.918000	0.00695	-0.158000	0.11040	0.533000	0.62120	TTA		0.478	PEX11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313420.1	NM_003847		7	466	0	0	0	1	0	7	466				
DIP2C	22982	broad.mit.edu	37	10	355983	355983	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:355983A>T	ENST00000280886.6	-	32	4061	c.3974T>A	c.(3973-3975)cTg>cAg	p.L1325Q		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1325						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GTCGTGTCTCAGGGCTCTCAT	0.473																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(3973-3975)cTg>cAg		DIP2 disco-interacting protein 2 homolog C (Drosophila)							172.0	150.0	157.0					10																	355983		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:355983A>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3974T>A	10.37:g.355983A>T	ENSP00000280886:p.Leu1325Gln						p.L1325Q	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	32	4061	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	1325					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.3974T>A	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.920316	0.73098	.	.	ENSG00000151240	ENST00000280886;ENST00000535541	T	0.44083	0.93	5.19	5.19	0.71726	AMP-dependent synthetase/ligase (1);	0.000000	0.64402	D	0.000002	T	0.65749	0.2721	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70901	-0.4746	10	0.87932	D	0	-19.515	15.0011	0.71473	1.0:0.0:0.0:0.0	.	1325	Q9Y2E4	DIP2C_HUMAN	Q	1325;250	ENSP00000280886:L1325Q	ENSP00000280886:L1325Q	L	-	2	0	DIP2C	345983	1.000000	0.71417	0.993000	0.49108	0.679000	0.39708	8.241000	0.89816	2.083000	0.62718	0.482000	0.46254	CTG		0.473	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		92	209	0	0	0	1	0	92	209				
SMYD2	56950	broad.mit.edu	37	1	214507541	214507541	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:214507541A>T	ENST00000366957.5	+	11	1134		c.e11-1		SMYD2_ENST00000415093.2_Splice_Site|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		CTCTTGTTCTAGTAAGCACTA	0.572																																						ENST00000366957.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14						c.e11-1		SET and MYND domain containing 2							228.0	210.0	216.0					1																	214507541		2203	4300	6503	SO:0001630	splice_region_variant	56950				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding	g.chr1:214507541A>T	AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.1113-1A>T	1.37:g.214507541A>T						SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Splice_Site		NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)	11	1134	+								B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Splice_Site	SNP	ENST00000366957.5	37		CCDS31022.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.904099	0.92035	.	.	ENSG00000143499	ENST00000366957	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMYD2	212574164	1.000000	0.71417	0.815000	0.32552	0.534000	0.34807	9.339000	0.96797	2.367000	0.80283	0.528000	0.53228	.		0.572	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	NM_020197	Intron	11	371	0	0	0	1	0	11	371				
SERINC5	256987	broad.mit.edu	37	5	79446773	79446773	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:79446773T>A	ENST00000507668.2	-	9	1137		c.e9-2		SERINC5_ENST00000512721.1_Splice_Site|SERINC5_ENST00000512972.2_Splice_Site|SERINC5_ENST00000509193.1_Splice_Site	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5						myelination (GO:0042552)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GATGTCAAACTAAGAAACAGA	0.483																																						ENST00000507668.2																			0				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8						c.e9-2		serine incorporator 5							108.0	107.0	107.0					5																	79446773		2009	4160	6169	SO:0001630	splice_region_variant	256987				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane		g.chr5:79446773T>A	AF498273	CCDS54874.1	5q14.1	2014-01-28	2005-10-14	2005-10-14		ENSG00000164300			18825	protein-coding gene	gene with protein product		614551	"""chromosome 5 open reading frame 12"""	C5orf12		12688535	Standard	NM_178276		Approved	TPO1	uc011ctj.2	Q86VE9		ENST00000507668.2:c.987-2A>T	5.37:g.79446773T>A						SERINC5_ENST00000509193.1_Splice_Site|SERINC5_ENST00000512721.1_Splice_Site|SERINC5_ENST00000512972.2_Splice_Site		NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)	9	1137	-		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)						B4DMH7|Q495A4|Q495A6	Splice_Site	SNP	ENST00000507668.2	37		CCDS54873.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.610702	0.66558	.	.	ENSG00000164300	ENST00000507668;ENST00000329637;ENST00000509193;ENST00000512972;ENST00000512721	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0754	0.59083	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SERINC5	79482529	1.000000	0.71417	0.973000	0.42090	0.730000	0.41778	5.010000	0.64004	2.179000	0.69175	0.533000	0.62120	.		0.483	SERINC5-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_178276	Intron	6	218	0	0	0	1	0	6	218				
LARS	51520	broad.mit.edu	37	5	145551555	145551555	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:145551555T>A	ENST00000394434.2	-	4	380		c.e4-2		LARS_ENST00000510191.1_Splice_Site|LARS_ENST00000274562.9_Intron|LARS_ENST00000545646.1_Splice_Site|LARS_ENST00000511505.1_Splice_Site	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase						gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TACAGCAAACTACAGaaataa	0.333																																						ENST00000394434.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34						c.e4-2		leucyl-tRNA synthetase	L-Leucine(DB00149)						68.0	67.0	67.0					5																	145551555		2203	4300	6503	SO:0001630	splice_region_variant	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145551555T>A	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.214-2A>T	5.37:g.145551555T>A						LARS_ENST00000510191.1_Splice_Site|LARS_ENST00000511505.1_Splice_Site|LARS_ENST00000274562.9_Intron|LARS_ENST00000545646.1_Splice_Site		NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	380	-								A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Splice_Site	SNP	ENST00000394434.2	37		CCDS34265.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.219768	0.79464	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000360930	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6804	0.77364	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LARS	145531748	1.000000	0.71417	0.978000	0.43139	0.830000	0.47004	7.524000	0.81866	2.101000	0.63845	0.460000	0.39030	.		0.333	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117	Intron	5	66	0	0	0	1	0	5	66				
SMG6	23293	broad.mit.edu	37	17	2203642	2203642	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:2203642G>T	ENST00000263073.6	-	2	455	c.405C>A	c.(403-405)atC>atA	p.I135I	SMG6_ENST00000544865.1_Silent_p.I104I	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	135	EJC-binding motif 2; mediates interaction with the EJC.|Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTGTTCTTTTGATAATTTTTA	0.468																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(310-312)atC>atA		SMG6 nonsense mediated mRNA decay factor							127.0	141.0	136.0					17																	2203642		2203	4300	6503	SO:0001819	synonymous_variant	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2203642G>T	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.405C>A	17.37:g.2203642G>T						SMG6_ENST00000263073.5_Silent_p.I135I	p.I104I			Q86US8	EST1A_HUMAN			2	822	-			135					B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	c.312C>A	CCDS11016.1																																																																																				0.468	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			4	156	1	0	0.000602214	1	0.00063538	4	156				
PEX12	5193	broad.mit.edu	37	17	33904556	33904556	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:33904556C>T	ENST00000225873.4	-	2	788	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	61					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTAAAGATTTCATCAAACCAC	0.373																																						ENST00000225873.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18						c.(181-183)Gaa>Aaa		peroxisomal biogenesis factor 12							109.0	122.0	118.0					17																	33904556		2200	4295	6495	SO:0001583	missense	5193				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	g.chr17:33904556C>T	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.181G>A	17.37:g.33904556C>T	ENSP00000225873:p.Glu61Lys						p.E61K	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	788	-			61					B2R6M2	Missense_Mutation	SNP	ENST00000225873.4	37	c.181G>A	CCDS11296.1	.	.	.	.	.	.	.	.	.	.	C	35	5.485534	0.96323	.	.	ENSG00000108733	ENST00000424525;ENST00000225873	D	0.91124	-2.79	5.63	5.63	0.86233	Pex, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96078	0.8722	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96407	0.9301	10	0.87932	D	0	-14.8476	18.6723	0.91516	0.0:1.0:0.0:0.0	.	61	O00623	PEX12_HUMAN	K	61	ENSP00000225873:E61K	ENSP00000225873:E61K	E	-	1	0	PEX12	30928669	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.080000	0.76837	2.651000	0.90000	0.650000	0.86243	GAA		0.373	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		267	603	0	0	0	1	0	267	603				
FBXL5	26234	broad.mit.edu	37	4	15613936	15613936	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:15613936C>T	ENST00000341285.3	-	10	2076	c.1952G>A	c.(1951-1953)tGt>tAt	p.C651Y	FBXL5_ENST00000382358.4_Missense_Mutation_p.C525Y|FBXL5_ENST00000412094.2_Missense_Mutation_p.C634Y	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	651					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CAGAGAAGGACATGCTGAAAC	0.383																																						ENST00000341285.3																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(1951-1953)tGt>tAt		F-box and leucine-rich repeat protein 5							80.0	76.0	77.0					4																	15613936		2203	4300	6503	SO:0001583	missense	26234				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity	g.chr4:15613936C>T	AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"""F-boxes / Leucine-rich repeats"""	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.1952G>A	4.37:g.15613936C>T	ENSP00000344866:p.Cys651Tyr					FBXL5_ENST00000412094.2_Missense_Mutation_p.C634Y|FBXL5_ENST00000382358.4_Missense_Mutation_p.C525Y	p.C651Y	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN			10	2076	-			651					A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	c.1952G>A	CCDS3415.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.841391|4.841391	0.91197|0.91197	.|.	.|.	ENSG00000118564|ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358|ENST00000513163	T;T;T|.	0.19938|.	2.11;2.11;2.11|.	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	0.042743|.	0.85682|.	D|.	0.000000|.	D|D	0.83161|0.83161	0.5194|0.5194	M|M	0.83603|0.83603	2.65|2.65	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.998|.	D;D|.	0.68943|.	0.961;0.915|.	T|T	0.82737|0.82737	-0.0309|-0.0309	10|5	0.87932|.	D|.	0|.	-16.9487|-16.9487	20.452|20.452	0.99131|0.99131	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	634;651|.	Q9UKA1-2;Q9UKA1|.	.;FBXL5_HUMAN|.	Y|I	651;634;525|571	ENSP00000344866:C651Y;ENSP00000408679:C634Y;ENSP00000371795:C525Y|.	ENSP00000344866:C651Y|.	C|M	-|-	2|3	0|0	FBXL5|FBXL5	15223034|15223034	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.851000|0.851000	0.48451|0.48451	7.818000|7.818000	0.86416|0.86416	2.838000|2.838000	0.97847|0.97847	0.591000|0.591000	0.81541|0.81541	TGT|ATG		0.383	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2			3	46	0	0	0	1	0	3	46				
MCPH1	79648	broad.mit.edu	37	8	6266849	6266849	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:6266849T>A	ENST00000344683.5	+	2	148	c.72T>A	c.(70-72)taT>taA	p.Y24*	RP11-115C21.2_ENST00000500118.2_RNA|RP11-115C21.2_ENST00000606853.1_RNA|MCPH1_ENST00000522905.1_Nonsense_Mutation_p.Y24*|RP11-115C21.2_ENST00000523225.1_RNA|MCPH1_ENST00000519480.1_Nonsense_Mutation_p.Y24*	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	24	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CAGAAAATTATTCAAAGACAT	0.363																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6						c.(70-72)taT>taA		microcephalin 1							159.0	149.0	152.0					8																	6266849		1878	4110	5988	SO:0001587	stop_gained	79648					microtubule organizing center		g.chr8:6266849T>A	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.72T>A	8.37:g.6266849T>A	ENSP00000342924:p.Tyr24*					MCPH1_ENST00000522905.1_Nonsense_Mutation_p.Y24*|MCPH1_ENST00000519480.1_Nonsense_Mutation_p.Y24*	p.Y24*	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	2	148	+		Hepatocellular(245;0.0663)	24			BRCT 1.		B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Nonsense_Mutation	SNP	ENST00000344683.5	37	c.72T>A	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	T	36	5.690341	0.96793	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	.	.	.	5.13	1.41	0.22369	.	0.086750	0.48286	D	0.000188	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.1867	7.6003	0.28073	0.0:0.2679:0.0:0.7321	.	.	.	.	X	24	.	ENSP00000342924:Y24X	Y	+	3	2	MCPH1	6254257	0.977000	0.34250	0.999000	0.59377	0.902000	0.53008	0.010000	0.13242	-0.018000	0.14079	0.482000	0.46254	TAT		0.363	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		40	33	0	0	0	1	0	40	33				
ZNF45	7596	broad.mit.edu	37	19	44426347	44426347	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:44426347C>A	ENST00000269973.5	-	0	1081				RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_De_novo_Start_OutOfFrame	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45						gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TTTTGTCCTCCTCCTTCTGGA	0.408																																						ENST00000269973.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17								zinc finger protein 45							87.0	74.0	79.0					19																	44426347		2203	4300	6503			7596				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44426347C>A	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.-10G>T	19.37:g.44426347C>A						ZNF45_ENST00000589703.1_De_novo_Start_OutOfFrame|RP11-15A1.2_ENST00000586247.1_RNA		NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN			0	1081	-								P17016|P78472|Q9P1U9	Translation_Start_Site	SNP	ENST00000269973.5	37		CCDS12632.1																																																																																				0.408	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		13	137	1	0	0.0202918	1	0.0209836	13	137				
ZNF783	100289678	broad.mit.edu	37	7	148963912	148963912	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:148963912G>A	ENST00000434415.1	+	3	586	c.423G>A	c.(421-423)gtG>gtA	p.V141V		NM_001195220.1	NP_001182149.1	Q6ZMS7	ZN783_HUMAN	zinc finger family member 783	141					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GGTTCCAGGTGCCCGTGACCT	0.622																																						ENST00000434415.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22						c.(421-423)gtG>gtA		zinc finger family member 783							231.0	217.0	222.0					7																	148963912		2203	4300	6503	SO:0001819	synonymous_variant	100289678				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr7:148963912G>A	AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000434415.1:c.423G>A	7.37:g.148963912G>A							p.V141V	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0014)		3	586	+	Melanoma(164;0.15)		141					C9J9J2	Silent	SNP	ENST00000434415.1	37	c.423G>A	CCDS56519.1																																																																																				0.622	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352715.1	NM_001195220		62	645	0	0	0	1	0	62	645				
DSCAM	1826	broad.mit.edu	37	21	41648022	41648022	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr21:41648022A>T	ENST00000400454.1	-	11	2834		c.e11+1			NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule						cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTTCTCTCTTACTTTTAACCG	0.448																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.e11+1		Down syndrome cell adhesion molecule							95.0	98.0	97.0					21																	41648022		2013	4216	6229	SO:0001630	splice_region_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41648022A>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2356+1T>A	21.37:g.41648022A>T								NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			11	2834	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)						O60468	Splice_Site	SNP	ENST00000400454.1	37		CCDS42929.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.930316	0.92389	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1193	0.81336	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DSCAM	40569892	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.228000	0.95250	2.204000	0.70986	0.528000	0.53228	.		0.448	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389	Intron	6	146	0	0	0	1	0	6	146				
PLIN2	123	broad.mit.edu	37	9	19126128	19126128	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:19126128C>A	ENST00000276914.2	-	3	389	c.210G>T	c.(208-210)caG>caT	p.Q70H	PLIN2_ENST00000411567.1_Missense_Mutation_p.Q70H|PLIN2_ENST00000380464.3_Missense_Mutation_p.Q70H|PLIN2_ENST00000380465.3_Missense_Mutation_p.Q70H	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	70					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						GCTCTAGCTTCTGGATGATGG	0.532																																						ENST00000276914.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						c.(208-210)caG>caT		perilipin 2							122.0	103.0	109.0					9																	19126128		2203	4300	6503	SO:0001583	missense	123				cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle		g.chr9:19126128C>A	X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"""Perilipins"""	248	protein-coding gene	gene with protein product	"""adipophilin"""	103195	"""adipose differentiation-related protein"""	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.210G>T	9.37:g.19126128C>A	ENSP00000276914:p.Gln70His					PLIN2_ENST00000380465.3_Missense_Mutation_p.Q70H|PLIN2_ENST00000411567.1_Missense_Mutation_p.Q70H|PLIN2_ENST00000380464.3_Missense_Mutation_p.Q70H	p.Q70H	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN			3	389	-			70					Q9BSC3	Missense_Mutation	SNP	ENST00000276914.2	37	c.210G>T	CCDS6490.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.946502	0.34377	.	.	ENSG00000147872	ENST00000411567;ENST00000276914;ENST00000434144;ENST00000380465;ENST00000380464	T;T;T;T;T	0.05925	3.37;3.37;3.37;3.37;3.37	5.54	2.6	0.31112	.	0.296956	0.38778	N	0.001567	T	0.04952	0.0133	L	0.35487	1.065	0.32574	N	0.529398	B;B	0.25272	0.122;0.01	B;B	0.24974	0.057;0.026	T	0.20075	-1.0286	10	0.36615	T	0.2	.	5.829	0.18570	0.0:0.5394:0.2589:0.2017	.	70;70	E9PG83;Q99541	.;PLIN2_HUMAN	H	70	ENSP00000415270:Q70H;ENSP00000276914:Q70H;ENSP00000403421:Q70H;ENSP00000369832:Q70H;ENSP00000369831:Q70H	ENSP00000276914:Q70H	Q	-	3	2	PLIN2	19116128	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.237000	0.32695	0.245000	0.21373	0.561000	0.74099	CAG		0.532	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1	NM_001122		16	353	1	0	2.35188e-11	1	2.65042e-11	16	353				
WBP11	51729	broad.mit.edu	37	12	14947533	14947533	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:14947533C>G	ENST00000261167.2	-	7	892	c.659G>C	c.(658-660)gGt>gCt	p.G220A		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	220	Interaction with PP1. {ECO:0000250}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						TAGGGCAAAACCCACTTTACG	0.502																																						ENST00000261167.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						c.(658-660)gGt>gCt		WW domain binding protein 11							184.0	191.0	189.0					12																	14947533		2203	4300	6503	SO:0001583	missense	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14947533C>G	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.659G>C	12.37:g.14947533C>G	ENSP00000261167:p.Gly220Ala					WBP11_ENST00000537574.1_Missense_Mutation_p.G220A	p.G220A	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN			7	892	-			220			Interaction with PP1 (By similarity).		Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	c.659G>C	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723796	0.48728	.	.	ENSG00000084463	ENST00000261167;ENST00000537574	.	.	.	4.36	4.36	0.52297	.	0.000000	0.64402	D	0.000006	T	0.58892	0.2154	M	0.66939	2.045	0.44018	D	0.996734	B	0.27068	0.167	B	0.13407	0.009	T	0.61098	-0.7131	9	0.44086	T	0.13	-7.329	14.7645	0.69629	0.0:1.0:0.0:0.0	.	220	Q9Y2W2	WBP11_HUMAN	A	220	.	ENSP00000261167:G220A	G	-	2	0	WBP11	14838800	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.985000	0.56930	2.437000	0.82529	0.655000	0.94253	GGT		0.502	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		185	512	0	0	0	1	0	185	512				
SLC13A1	6561	broad.mit.edu	37	7	122769435	122769435	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:122769435A>T	ENST00000194130.2	-	9	1071		c.e9+1		SLC13A1_ENST00000539873.1_Splice_Site	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	tgtttgtCTTACCTTATTGGC	0.408																																						ENST00000194130.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45						c.e9+1		solute carrier family 13 (sodium/sulfate symporter), member 1	Succinic acid(DB00139)						211.0	163.0	179.0					7																	122769435		2203	4300	6503	SO:0001630	splice_region_variant	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122769435A>T		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1031+1T>A	7.37:g.122769435A>T						SLC13A1_ENST00000539873.1_Splice_Site		NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN			9	1071	-								Q9H5Z0	Splice_Site	SNP	ENST00000194130.2	37		CCDS5786.1	.	.	.	.	.	.	.	.	.	.	A	17.68	3.450122	0.63290	.	.	ENSG00000081800	ENST00000194130	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1252	0.72478	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC13A1	122556671	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	6.445000	0.73456	2.170000	0.68504	0.379000	0.24179	.		0.408	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444	Intron	6	183	0	0	0	1	0	6	183				
GMDS	2762	broad.mit.edu	37	6	2116073	2116073	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:2116073G>T	ENST00000380815.4	-	4	546	c.277C>A	c.(277-279)Ctt>Att	p.L93I	GMDS_ENST00000530927.1_Missense_Mutation_p.L63I	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	93					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		ATCTTCACAAGGCAGGTACTG	0.413																																						ENST00000380815.4																		GMDS/PDE8B(2)	0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21						c.(277-279)Ctt>Att		GDP-mannose 4,6-dehydratase							186.0	173.0	178.0					6																	2116073		2203	4300	6503	SO:0001583	missense	2762				'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	g.chr6:2116073G>T	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.277C>A	6.37:g.2116073G>T	ENSP00000370194:p.Leu93Ile					GMDS_ENST00000530927.1_Missense_Mutation_p.L63I	p.L93I	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)	4	546	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	93					E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	ENST00000380815.4	37	c.277C>A	CCDS4474.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107955	0.77096	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	D;D	0.94184	-3.37;-3.37	5.64	5.64	0.86602	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95915	0.8670	M	0.72479	2.2	0.80722	D	1	D	0.54207	0.965	D	0.63957	0.92	D	0.95710	0.8757	10	0.66056	D	0.02	-14.8703	19.7154	0.96115	0.0:0.0:1.0:0.0	.	93	O60547	GMDS_HUMAN	I	63;93	ENSP00000436726:L63I;ENSP00000370194:L93I	ENSP00000370194:L93I	L	-	1	0	GMDS	2061072	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.597000	0.61062	2.664000	0.90586	0.655000	0.94253	CTT		0.413	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3			10	334	1	0	0.00136819	1	0.00143937	10	334				
SLC4A7	9497	broad.mit.edu	37	3	27427425	27427425	+	Missense_Mutation	SNP	A	A	T	rs201832393		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:27427425A>T	ENST00000295736.5	-	23	3493	c.3423T>A	c.(3421-3423)agT>agA	p.S1141R	SLC4A7_ENST00000435667.2_Missense_Mutation_p.S1026R|SLC4A7_ENST00000388777.4_Missense_Mutation_p.S691R|SLC4A7_ENST00000428386.1_Missense_Mutation_p.S1017R|SLC4A7_ENST00000437179.1_Missense_Mutation_p.S1022R|SLC4A7_ENST00000446700.1_Missense_Mutation_p.S1133R|SLC4A7_ENST00000440156.1_Missense_Mutation_p.S1137R|SLC4A7_ENST00000454389.1_Missense_Mutation_p.S1150R|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000445684.1_Missense_Mutation_p.S1137R|SLC4A7_ENST00000455077.1_Missense_Mutation_p.S1022R	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1141					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	tctttttcttactttctGGCA	0.323																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(3421-3423)agT>agA		solute carrier family 4, sodium bicarbonate cotransporter, member 7							84.0	92.0	89.0					3																	27427425		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27427425A>T	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.3423T>A	3.37:g.27427425A>T	ENSP00000295736:p.Ser1141Arg					SLC4A7_ENST00000440156.1_Missense_Mutation_p.S1137R|SLC4A7_ENST00000388777.4_Missense_Mutation_p.S691R|SLC4A7_ENST00000437179.1_Missense_Mutation_p.S1022R|SLC4A7_ENST00000445684.1_Missense_Mutation_p.S1137R|SLC4A7_ENST00000446700.1_Missense_Mutation_p.S1133R|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000428386.1_Missense_Mutation_p.S1017R|SLC4A7_ENST00000454389.1_Missense_Mutation_p.S1150R|SLC4A7_ENST00000435667.2_Missense_Mutation_p.S1026R|SLC4A7_ENST00000455077.1_Missense_Mutation_p.S1022R	p.S1141R	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN			23	3493	-			1141					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.3423T>A	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.462069	0.84425	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T	0.80824	-1.42;-1.1;-1.13;-1.11;-1.19;-1.13;-1.18;-1.14;-1.18;-1.14;-1.42;-1.11	5.53	5.53	0.82687	.	0.038500	0.85682	D	0.000000	D	0.83885	0.5351	L	0.33339	1.005	0.80722	D	1	D;P;D;D;D;B;P;D;P	0.69078	0.992;0.914;0.992;0.997;0.984;0.339;0.949;0.992;0.843	D;P;D;D;P;B;P;D;P	0.68943	0.954;0.71;0.954;0.961;0.899;0.25;0.848;0.954;0.655	D	0.83533	0.0092	10	0.38643	T	0.18	.	15.9523	0.79850	1.0:0.0:0.0:0.0	.	1137;1022;1133;1137;1150;691;1017;1141;1022	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	R	692;1141;1017;1150;1137;1022;1133;1022;1137;1026;691;1037	ENSP00000411031:S692R;ENSP00000295736:S1141R;ENSP00000416368:S1017R;ENSP00000390394:S1150R;ENSP00000414797:S1137R;ENSP00000394252:S1022R;ENSP00000406605:S1133R;ENSP00000407382:S1022R;ENSP00000406804:S1137R;ENSP00000395336:S1026R;ENSP00000373429:S691R;ENSP00000388703:S1037R	ENSP00000295736:S1141R	S	-	3	2	SLC4A7	27402429	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.971000	0.63749	2.226000	0.72624	0.533000	0.62120	AGT		0.323	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		12	89	0	0	0	1	0	12	89				
AARS2	57505	broad.mit.edu	37	6	44270864	44270864	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:44270864G>A	ENST00000244571.4	-	16	2196	c.2194C>T	c.(2194-2196)Cat>Tat	p.H732Y	RP11-444E17.6_ENST00000505802.1_Intron|AARS2_ENST00000491573.1_5'Flank|TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCAATGCATGGGCCACGGGC	0.622																																						ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(2194-2196)Cat>Tat		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						58.0	61.0	60.0					6																	44270864		2203	4300	6503	SO:0001583	missense	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44270864G>A	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2194C>T	6.37:g.44270864G>A	ENSP00000244571:p.His732Tyr					TMEM151B_ENST00000438774.2_Intron	p.H732Y	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		16	2196	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		732						Missense_Mutation	SNP	ENST00000244571.4	37	c.2194C>T	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	G	8.194	0.796621	0.16327	.	.	ENSG00000124608	ENST00000244571	T	0.63417	-0.04	5.26	1.17	0.20885	Threonyl/alanyl tRNA synthetase, SAD (2);Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	1.775510	0.02325	N	0.073357	T	0.20373	0.0490	N	0.08118	0	0.21579	N	0.999638	B	0.24721	0.11	B	0.28991	0.097	T	0.32903	-0.9889	10	0.87932	D	0	9.0639	1.2403	0.01961	0.172:0.2247:0.3873:0.216	.	732	Q5JTZ9	SYAM_HUMAN	Y	732	ENSP00000244571:H732Y	ENSP00000244571:H732Y	H	-	1	0	AARS2	44378842	0.544000	0.26441	0.379000	0.26080	0.062000	0.15995	1.605000	0.36815	0.370000	0.24538	-0.150000	0.13652	CAT		0.622	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		4	60	0	0	0	1	0	4	60				
DIDO1	11083	broad.mit.edu	37	20	61528151	61528151	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:61528151T>C	ENST00000266070.4	-	7	2111	c.1786A>G	c.(1786-1788)Aag>Gag	p.K596E	DIDO1_ENST00000395335.2_Missense_Mutation_p.K596E|DIDO1_ENST00000395340.1_Missense_Mutation_p.K596E|DIDO1_ENST00000395343.1_Missense_Mutation_p.K596E	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	596					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CATGGCCTCTTGGGGATGGTG	0.587																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(1786-1788)Aag>Gag		death inducer-obliterator 1							68.0	69.0	69.0					20																	61528151		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61528151T>C	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1786A>G	20.37:g.61528151T>C	ENSP00000266070:p.Lys596Glu					DIDO1_ENST00000395343.1_Missense_Mutation_p.K596E|DIDO1_ENST00000395335.2_Missense_Mutation_p.K596E|DIDO1_ENST00000395340.1_Missense_Mutation_p.K596E	p.K596E	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			7	2111	-	Breast(26;5.68e-08)		596					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.1786A>G	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	T	18.60	3.659965	0.67586	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.13089	2.96;2.96;2.62;2.62	5.82	5.82	0.92795	.	0.000000	0.44902	D	0.000409	T	0.29620	0.0739	M	0.72894	2.215	0.80722	D	1	D;D	0.62365	0.971;0.991	P;P	0.53593	0.572;0.73	T	0.02339	-1.1174	10	0.72032	D	0.01	-48.2039	14.7533	0.69543	0.0:0.0:0.0:1.0	.	596;596	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	E	596	ENSP00000266070:K596E;ENSP00000378752:K596E;ENSP00000378749:K596E;ENSP00000378744:K596E	ENSP00000266070:K596E	K	-	1	0	DIDO1	60998596	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	2.575000	0.46025	2.225000	0.72522	0.460000	0.39030	AAG		0.587	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		7	419	0	0	0	1	0	7	419				
TATDN1	83940	broad.mit.edu	37	8	125498070	125498070	+	IGR	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:125498070A>T	ENST00000276692.6	-	0	1018				RP11-158K1.3_ENST00000518639.1_RNA|RNF139_ENST00000303545.3_Splice_Site	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TCTTTCTTTTAGGTGTATTTG	0.328																																						ENST00000303545.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20						c.e2-1		ring finger protein 139							83.0	74.0	77.0					8																	125498070		2202	4300	6502	SO:0001628	intergenic_variant	11236				negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr8:125498070A>T	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125498070A>T								NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	553	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)							B2R5J0|Q8TD02|Q9BY40	Splice_Site	SNP	ENST00000276692.6	37		CCDS6351.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.349717	0.41599	.	.	ENSG00000170881	ENST00000303545	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1383	0.72586	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF139	125567251	1.000000	0.71417	0.985000	0.45067	0.270000	0.26580	8.566000	0.90734	2.025000	0.59659	0.528000	0.53228	.		0.328	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		4	106	0	0	0	1	0	4	106				
PDIA6	10130	broad.mit.edu	37	2	10927548	10927548	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:10927548G>T	ENST00000272227.3	-	11	1163	c.1016C>A	c.(1015-1017)gCt>gAt	p.A339D	PDIA6_ENST00000381611.4_Missense_Mutation_p.A344D|PDIA6_ENST00000404824.2_Missense_Mutation_p.A387D|PDIA6_ENST00000540494.1_Missense_Mutation_p.A336D|PDIA6_ENST00000404371.2_Missense_Mutation_p.A391D	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	339					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		CTGGGCTCCAGCTTCTGTCCA	0.468																																					GBM(73;509 1219 34219 41343 41551)	ENST00000404371.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18						c.(1171-1173)gCt>gAt		protein disulfide isomerase family A, member 6							70.0	73.0	72.0					2																	10927548		2203	4300	6503	SO:0001583	missense	10130				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr2:10927548G>T	BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"""Protein disulfide isomerases"""	30168	protein-coding gene	gene with protein product	"""protein disulfide isomerase-related protein"""	611099	"""thioredoxin domain containing 7 (protein disulfide isomerase)"", ""protein disulfide isomerase-associated 6"""	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.1016C>A	2.37:g.10927548G>T	ENSP00000272227:p.Ala339Asp					PDIA6_ENST00000272227.3_Missense_Mutation_p.A339D|PDIA6_ENST00000404824.2_Missense_Mutation_p.A387D|PDIA6_ENST00000381611.4_Missense_Mutation_p.A344D|PDIA6_ENST00000540494.1_Missense_Mutation_p.A336D	p.A391D			Q15084	PDIA6_HUMAN		Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)	13	1509	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		339					B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Missense_Mutation	SNP	ENST00000272227.3	37	c.1172C>A	CCDS1675.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174040	0.94807	.	.	ENSG00000143870	ENST00000272227;ENST00000404371;ENST00000404824;ENST00000540494;ENST00000381611	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	5.77	5.77	0.91146	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.52289	0.1725	M	0.89287	3.02	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;0.999	D;D;D;D	0.83275	0.974;0.991;0.991;0.996	T	0.57894	-0.7732	10	0.87932	D	0	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	336;387;391;339	B7Z254;B5MCQ5;Q15084-2;Q15084	.;.;.;PDIA6_HUMAN	D	339;391;387;336;344	ENSP00000272227:A339D;ENSP00000385385:A391D;ENSP00000384459:A387D;ENSP00000438778:A336D;ENSP00000371024:A344D	ENSP00000272227:A339D	A	-	2	0	PDIA6	10844999	1.000000	0.71417	0.998000	0.56505	0.828000	0.46876	7.858000	0.86971	2.885000	0.99019	0.655000	0.94253	GCT		0.468	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	NM_005742		23	67	1	0	1.1904e-30	1	1.39777e-30	23	67				
MYO3B	140469	broad.mit.edu	37	2	171256785	171256785	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:171256785G>A	ENST00000408978.4	+	17	2022	c.1879G>A	c.(1879-1881)Gat>Aat	p.D627N	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.D627N|MYO3B_ENST00000334231.6_Missense_Mutation_p.D636N	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	627	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ACATCAGACTGATAAAAGTGA	0.418																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(1906-1908)Gat>Aat		myosin IIIB							178.0	162.0	167.0					2																	171256785		1858	4107	5965	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171256785G>A		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1879G>A	2.37:g.171256785G>A	ENSP00000386213:p.Asp627Asn					MYO3B_ENST00000409044.3_Missense_Mutation_p.D627N|MYO3B_ENST00000408978.4_Missense_Mutation_p.D627N|MYO3B_ENST00000602629.1_3'UTR	p.D636N			Q8WXR4	MYO3B_HUMAN			17	1906	+			627			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.1906G>A	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	G	34	5.405188	0.96051	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	6.03	6.03	0.97812	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.86260	0.5890	M	0.84219	2.685	0.80722	D	1	D;P;D	0.89917	1.0;0.729;1.0	D;B;D	0.85130	0.997;0.316;0.996	D	0.84935	0.0862	10	0.45353	T	0.12	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	627;627;627	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	N	627;627;626;636;636	ENSP00000386497:D627N;ENSP00000386213:D627N;ENSP00000446237:D636N;ENSP00000335100:D636N	ENSP00000314213:D626N	D	+	1	0	MYO3B	170965031	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	GAT		0.418	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			9	408	0	0	0	1	0	9	408				
SLC9A8	23315	broad.mit.edu	37	20	48479596	48479596	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:48479596T>G	ENST00000361573.2	+	9	886	c.844T>G	c.(844-846)Tct>Gct	p.S282A	SLC9A8_ENST00000541138.1_Intron|SLC9A8_ENST00000417961.1_Missense_Mutation_p.S298A|SLC9A8_ENST00000539601.1_Missense_Mutation_p.S63A			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	282					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TGGCTTAATTTCTGCATTAAT	0.418																																						ENST00000417961.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(892-894)Tct>Gct		solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8							76.0	73.0	74.0					20																	48479596		2203	4300	6503	SO:0001583	missense	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48479596T>G	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.844T>G	20.37:g.48479596T>G	ENSP00000354966:p.Ser282Ala					SLC9A8_ENST00000361573.2_Missense_Mutation_p.S282A|SLC9A8_ENST00000541138.1_Intron|SLC9A8_ENST00000539601.1_Missense_Mutation_p.S63A	p.S298A	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		9	1102	+			282					B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	ENST00000361573.2	37	c.892T>G	CCDS13421.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.378504	0.61735	.	.	ENSG00000197818	ENST00000417961;ENST00000361573;ENST00000539601	T;T;T	0.14516	2.5;2.5;2.5	5.39	5.39	0.77823	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.14874	0.0359	L	0.39326	1.205	0.80722	D	1	B	0.19073	0.033	B	0.27262	0.078	T	0.04976	-1.0914	10	0.30854	T	0.27	.	15.4123	0.74937	0.0:0.0:0.0:1.0	.	282	Q9Y2E8	SL9A8_HUMAN	A	298;282;63	ENSP00000416418:S298A;ENSP00000354966:S282A;ENSP00000441716:S63A	ENSP00000354966:S282A	S	+	1	0	SLC9A8	47913003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.538000	0.82048	2.023000	0.59567	0.460000	0.39030	TCT		0.418	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		32	58	0	0	0	1	0	32	58				
C18orf25	147339	broad.mit.edu	37	18	43796531	43796531	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr18:43796531A>G	ENST00000282059.6	+	2	1059	c.685A>G	c.(685-687)Agc>Ggc	p.S229G	C18orf25_ENST00000321319.6_Missense_Mutation_p.S229G	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	229										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						GGTTTCAGGGAGCAGCAAGAC	0.433																																						ENST00000282059.6																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						c.(685-687)Agc>Ggc		chromosome 18 open reading frame 25							39.0	38.0	38.0					18																	43796531		1975	4178	6153	SO:0001583	missense	147339							g.chr18:43796531A>G	AL713661	CCDS42430.1, CCDS42431.1	18q21.1	2014-01-03			ENSG00000152242	ENSG00000152242			28172	protein-coding gene	gene with protein product	"""ARKadia-like 1"""					15722956	Standard	NM_001008239		Approved	MGC12909, ARKL1, RNF111L1	uc002lbw.3	Q96B23		ENST00000282059.6:c.685A>G	18.37:g.43796531A>G	ENSP00000282059:p.Ser229Gly					C18orf25_ENST00000321319.6_Missense_Mutation_p.S229G	p.S229G	NM_145055.3	NP_659492.1	Q96B23	CR025_HUMAN			2	1059	+			229					A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	Missense_Mutation	SNP	ENST00000282059.6	37	c.685A>G	CCDS42430.1	.	.	.	.	.	.	.	.	.	.	A	13.60	2.285976	0.40394	.	.	ENSG00000152242	ENST00000282059;ENST00000321319	.	.	.	5.59	5.59	0.84812	.	0.044471	0.85682	D	0.000000	T	0.56717	0.2004	L	0.38531	1.155	0.46654	D	0.999146	B;P	0.51240	0.002;0.943	B;P	0.48400	0.005;0.576	T	0.58645	-0.7600	9	0.48119	T	0.1	-6.9465	15.788	0.78322	1.0:0.0:0.0:0.0	.	229;229	Q96B23-2;Q96B23	.;CR025_HUMAN	G	229	.	ENSP00000282059:S229G	S	+	1	0	C18orf25	42050529	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.619000	0.74219	2.145000	0.66743	0.533000	0.62120	AGC		0.433	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445242.1	NM_145055		3	89	0	0	0	1	0	3	89				
ZMYM6	9204	broad.mit.edu	37	1	35496172	35496172	+	Silent	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:35496172A>T	ENST00000357182.4	-	2	296	c.69T>A	c.(67-69)atT>atA	p.I23I	ZMYM6_ENST00000487874.1_Silent_p.I23I|ZMYM6_ENST00000373340.2_Silent_p.I23I|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000317538.5_Silent_p.I23I|ZMYM6_ENST00000373333.1_Silent_p.I23I	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	23					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GTTCTTCTTTAATTTTGTCCA	0.348																																						ENST00000357182.4																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44						c.(67-69)atT>atA		zinc finger, MYM-type 6							130.0	129.0	129.0					1																	35496172		2203	4300	6503	SO:0001819	synonymous_variant	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35496172A>T	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.69T>A	1.37:g.35496172A>T						ZMYM6_ENST00000373340.2_Silent_p.I23I|ZMYM6_ENST00000373333.1_Silent_p.I23I|ZMYM6_ENST00000487874.1_Silent_p.I23I|ZMYM6_ENST00000317538.5_Silent_p.I23I|ZMYM6_ENST00000493328.1_5'UTR	p.I23I	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN			2	296	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	23					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Silent	SNP	ENST00000357182.4	37	c.69T>A	CCDS387.2																																																																																				0.348	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		4	62	0	0	0	1	0	4	62				
ZNF831	128611	broad.mit.edu	37	20	57768699	57768699	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:57768699G>A	ENST00000371030.2	+	1	2625	c.2625G>A	c.(2623-2625)caG>caA	p.Q875Q		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	875							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTGCCAGGCAGGTGGGCGAGC	0.652																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(2623-2625)caG>caA		zinc finger protein 831							26.0	31.0	29.0					20																	57768699		1974	4150	6124	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768699G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2625G>A	20.37:g.57768699G>A							p.Q875Q	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	2625	+	all_lung(29;0.0085)		875					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.2625G>A	CCDS42894.1																																																																																				0.652	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		6	18	0	0	0	1	0	6	18				
STAG3L4	64940	broad.mit.edu	37	7	66774050	66774050	+	RNA	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:66774050G>T	ENST00000416602.2	+	0	491					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				ACTTCCCTATGGACAACCTCA	0.527																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7															148.0	150.0	149.0					7																	66774050		2203	4300	6503			64940							g.chr7:66774050G>T			7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"""stromal antigen 3-like 4"""				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		7.37:g.66774050G>T								NR_040586.1		Q8TBR4	STG34_HUMAN			0	491	+		Lung NSC(55;0.0839)|all_lung(88;0.181)						Q9H8W0	RNA	SNP	ENST00000416602.2	37			.	.	.	.	.	.	.	.	.	.	g	3.228	-0.158169	0.06544	.	.	ENSG00000106610	ENST00000416602;ENST00000437742	.	.	.	0.0465	0.0465	0.14256	STAG (1);	0.330121	0.30151	N	0.010300	T	0.32763	0.0840	.	.	.	.	.	.	B	0.17852	0.024	B	0.23574	0.047	T	0.22417	-1.0217	7	0.52906	T	0.07	.	5.9248	0.19104	7.0E-4:0.0:0.9993:0.0	.	72	Q8TBR4	STG34_HUMAN	I	72	.	ENSP00000408597:M72I	M	+	3	0	STAG3L4	66411485	1.000000	0.71417	0.018000	0.16275	0.018000	0.09664	4.519000	0.60517	0.132000	0.18615	0.134000	0.15878	ATG		0.527	STAG3L4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346611.1	NM_022906		7	338	1	0	1.76689e-08	1	1.94305e-08	7	338				
CDC16	8881	broad.mit.edu	37	13	115004475	115004475	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:115004475C>T	ENST00000356221.3	+	4	320	c.212C>T	c.(211-213)gCa>gTa	p.A71V	CDC16_ENST00000360383.3_Missense_Mutation_p.A71V|CDC16_ENST00000252458.6_5'UTR|CDC16_ENST00000375310.1_5'UTR|CDC16_ENST00000375308.1_5'UTR|CDC16_ENST00000375312.3_5'UTR|CDC16_ENST00000252457.5_Missense_Mutation_p.A70V			Q13042	CDC16_HUMAN	cell division cycle 16	71					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			TTGTATGAAGCATGTCGTTAC	0.299																																						ENST00000360383.3																			0				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(211-213)gCa>gTa		cell division cycle 16							116.0	115.0	115.0					13																	115004475		2203	4300	6503	SO:0001583	missense	8881				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding	g.chr13:115004475C>T	U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1720	protein-coding gene	gene with protein product	"""anaphase-promoting complex, subunit 6"""	603461	"""CDC16 (cell division cycle 16, S. cerevisiae, homolog)"", ""CDC16 cell division cycle 16 homolog (S. cerevisiae)"", ""cell division cycle 16 homolog (S. cerevisiae)"""			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.212C>T	13.37:g.115004475C>T	ENSP00000348554:p.Ala71Val					CDC16_ENST00000375310.1_5'UTR|CDC16_ENST00000375312.3_5'UTR|CDC16_ENST00000375308.1_5'UTR|CDC16_ENST00000252458.6_5'UTR|CDC16_ENST00000252457.5_Missense_Mutation_p.A70V|CDC16_ENST00000356221.3_Missense_Mutation_p.A71V	p.A71V	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)		4	410	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	71					A2A365|Q5T8C8|Q96AE6|Q9Y564	Missense_Mutation	SNP	ENST00000356221.3	37	c.212C>T	CCDS9542.2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936614	0.73442	.	.	ENSG00000130177	ENST00000360383;ENST00000356221;ENST00000252457	T;T;T	0.37235	1.21;1.21;1.21	5.61	5.61	0.85477	Tetratricopeptide-like helical (1);	0.048596	0.85682	D	0.000000	T	0.41396	0.1157	L	0.44542	1.39	0.80722	D	1	P;P;P;P	0.40619	0.662;0.724;0.724;0.587	B;B;P;B	0.45232	0.349;0.372;0.474;0.406	T	0.06197	-1.0840	9	.	.	.	-30.4895	19.6321	0.95713	0.0:1.0:0.0:0.0	.	71;70;70;71	B4DK74;Q13042-3;Q13042-2;Q13042	.;.;.;CDC16_HUMAN	V	71;71;70	ENSP00000353549:A71V;ENSP00000348554:A71V;ENSP00000252457:A70V	.	A	+	2	0	CDC16	114022577	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.889000	0.63171	2.658000	0.90341	0.650000	0.86243	GCA		0.299	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903		3	23	0	0	0	1	0	3	23				
DMXL1	1657	broad.mit.edu	37	5	118532064	118532064	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:118532064A>T	ENST00000311085.8	+	31	7537		c.e31-1		DMXL1_ENST00000539542.1_Splice_Site	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1											breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CTTTATTTTTAGTTGGTCCTT	0.388																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.e31-1		Dmx-like 1							204.0	189.0	194.0					5																	118532064		2202	4300	6502	SO:0001630	splice_region_variant	1657							g.chr5:118532064A>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7458-1A>T	5.37:g.118532064A>T						DMXL1_ENST00000539542.1_Splice_Site		NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	31	7537	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)							Splice_Site	SNP	ENST00000311085.8	37		CCDS4125.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.106784	0.77096	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1512	0.72700	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DMXL1	118559963	1.000000	0.71417	0.999000	0.59377	0.810000	0.45777	8.345000	0.90057	2.068000	0.61886	0.383000	0.25322	.		0.388	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509	Intron	8	306	0	0	0	1	0	8	306				
LRRC7	57554	broad.mit.edu	37	1	70446071	70446071	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:70446071C>A	ENST00000035383.5	+	7	637	c.607C>A	c.(607-609)Ctg>Atg	p.L203M	LRRC7_ENST00000310961.5_Missense_Mutation_p.L208M|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	203						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCCTGAAGTTCTGGATCAAAT	0.333																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(622-624)Ctg>Atg		leucine rich repeat containing 7							159.0	164.0	162.0					1																	70446071		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70446071C>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.607C>A	1.37:g.70446071C>A	ENSP00000035383:p.Leu203Met					LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.L203M	p.L208M			Q96NW7	LRRC7_HUMAN			10	1040	+			203					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.622C>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.194318	0.58017	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.35048	1.48;1.33	5.25	4.33	0.51752	.	0.080799	0.51477	D	0.000094	T	0.46171	0.1379	L	0.61036	1.89	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.49826	-0.8898	10	0.54805	T	0.06	.	13.7128	0.62678	0.0:0.8459:0.1541:0.0	.	203	Q96NW7	LRRC7_HUMAN	M	208;203;26	ENSP00000309245:L208M;ENSP00000035383:L203M	ENSP00000035383:L203M	L	+	1	2	LRRC7	70218659	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.435000	0.52849	1.333000	0.45449	-0.172000	0.13284	CTG		0.333	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		4	174	1	0	1.12685e-05	1	1.20286e-05	4	174				
DGKE	8526	broad.mit.edu	37	17	54912520	54912520	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:54912520G>A	ENST00000284061.3	+	2	544	c.364G>A	c.(364-366)Gcc>Acc	p.A122T	DGKE_ENST00000576869.1_3'UTR|C17orf67_ENST00000575658.1_5'Flank|C17orf67_ENST00000397861.2_5'Flank|DGKE_ENST00000572810.1_Missense_Mutation_p.A122T|C17orf67_ENST00000487705.1_Intron	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	122					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					GGTCCTGGACGCCATGCCCCA	0.592																																						ENST00000284061.3																			0				breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(364-366)Gcc>Acc		diacylglycerol kinase, epsilon 64kDa							81.0	69.0	73.0					17																	54912520		2203	4300	6503	SO:0001583	missense	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54912520G>A	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.364G>A	17.37:g.54912520G>A	ENSP00000284061:p.Ala122Thr					C17orf67_ENST00000487705.1_Intron|DGKE_ENST00000572810.1_Missense_Mutation_p.A122T|DGKE_ENST00000576869.1_3'UTR	p.A122T	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN			2	544	+	Breast(9;3.59e-07)		122					Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	37	c.364G>A	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.894467	0.33442	.	.	ENSG00000153933	ENST00000284061	D	0.84442	-1.85	5.51	0.773	0.18516	.	0.633633	0.16005	N	0.234095	T	0.60327	0.2260	N	0.04508	-0.205	0.09310	N	1	B;B	0.15473	0.013;0.013	B;B	0.08055	0.003;0.003	T	0.48175	-0.9058	10	0.08179	T	0.78	.	4.5715	0.12212	0.0714:0.2337:0.448:0.2469	.	122;122	A1L4Q0;P52429	.;DGKE_HUMAN	T	122	ENSP00000284061:A122T	ENSP00000284061:A122T	A	+	1	0	DGKE	52267519	0.188000	0.23250	0.556000	0.28293	0.977000	0.68977	0.407000	0.21049	0.206000	0.20587	-0.175000	0.13238	GCC		0.592	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		6	233	0	0	0	1	0	6	233				
POTEF	728378	broad.mit.edu	37	2	130877876	130877876	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:130877876G>C	ENST00000409914.2	-	3	612	c.213C>G	c.(211-213)tgC>tgG	p.C71W	POTEF_ENST00000357462.5_Missense_Mutation_p.C71W|POTEF_ENST00000361163.4_Missense_Mutation_p.C71W|POTEF_ENST00000360967.5_Missense_Mutation_p.C71W	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	71					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TCCCCCTGCAGCAGGGGAAGC	0.592																																						ENST00000357462.5																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(211-213)tgC>tgG		POTE ankyrin domain family, member F							82.0	114.0	103.0					2																	130877876		2189	4295	6484	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877876G>C	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.213C>G	2.37:g.130877876G>C	ENSP00000386786:p.Cys71Trp					POTEF_ENST00000409914.2_Missense_Mutation_p.C71W|POTEF_ENST00000361163.4_Missense_Mutation_p.C71W|POTEF_ENST00000360967.5_Missense_Mutation_p.C71W	p.C71W			A5A3E0	POTEF_HUMAN			1	306	-			71					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.213C>G	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	4.303	0.055538	0.08291	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.76186	-1.0;-1.0;1.82;1.79	.	.	.	.	.	.	.	.	T	0.71962	0.3402	L	0.47716	1.5	0.09310	N	0.999996	P	0.46578	0.88	P	0.51615	0.675	T	0.60291	-0.7292	7	0.40728	T	0.16	.	.	.	.	.	71	A5A3E0	POTEF_HUMAN	W	71	ENSP00000350052:C71W;ENSP00000386786:C71W;ENSP00000354232:C71W;ENSP00000355012:C71W	ENSP00000350052:C71W	C	-	3	2	POTEF	130594346	0.371000	0.25056	0.113000	0.21522	0.163000	0.22366	0.918000	0.28678	0.149000	0.19098	0.152000	0.16155	TGC		0.592	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		4	88	0	0	0	1	0	4	88				
TOPORS	10210	broad.mit.edu	37	9	32541886	32541886	+	Silent	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:32541886A>T	ENST00000360538.2	-	3	2753	c.2637T>A	c.(2635-2637)acT>acA	p.T879T	TOPORS_ENST00000379858.1_Silent_p.T814T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	879	Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		tATGGTGTTTAGTTGTATCAG	0.383																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2635-2637)acT>acA		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							162.0	168.0	166.0					9																	32541886		2203	4300	6503	SO:0001819	synonymous_variant	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541886A>T	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2637T>A	9.37:g.32541886A>T						TOPORS_ENST00000379858.1_Silent_p.T814T	p.T879T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2753	-			879			Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.		O43273|Q6P987|Q9NS55|Q9UNR9	Silent	SNP	ENST00000360538.2	37	c.2637T>A	CCDS6527.1																																																																																				0.383	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		5	176	0	0	0	1	0	5	176				
ZNF91	7644	broad.mit.edu	37	19	23544867	23544867	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:23544867T>C	ENST00000300619.7	-	4	1119	c.914A>G	c.(913-915)cAt>cGt	p.H305R	ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	305					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAATGGCTAAAAGC	0.413																																						ENST00000300619.7																			0											c.(913-915)cAt>cGt		zinc finger protein 91							78.0	82.0	81.0					19																	23544867		2175	4288	6463	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544867T>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.914A>G	19.37:g.23544867T>C	ENSP00000300619:p.His305Arg					ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R	p.H305R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1119	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	305					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.914A>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.588219	0.00872	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17691	2.26;2.26	2.03	0.954	0.19595	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05640	0.0148	N	0.04043	-0.29	0.09310	N	1	B;B	0.26081	0.116;0.141	B;B	0.15484	0.007;0.013	T	0.41251	-0.9519	9	0.07030	T	0.85	.	6.7777	0.23628	0.0:0.1365:0.0:0.8635	.	273;305	Q05481-2;Q05481	.;ZNF91_HUMAN	R	305;273	ENSP00000300619:H305R;ENSP00000380272:H273R	ENSP00000300619:H305R	H	-	2	0	ZNF91	23336707	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.802000	0.00184	-0.005000	0.14395	-1.601000	0.00813	CAT		0.413	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		4	152	0	0	0	1	0	4	152				
HCCAT5	283902	broad.mit.edu	37	16	73127098	73127098	+	lincRNA	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:73127098C>A	ENST00000569990.2	+	0	756					NR_027756.1				hepatocellular carcinoma associated transcript 5 (non-protein coding)																		TGGACGACCACGCGCATGCAG	0.542																																						ENST00000569990.2																			0																				41.0	42.0	42.0					16																	73127098		2015	4158	6173			283902							g.chr16:73127098C>A			16q22.3	2014-06-20			ENSG00000260880	ENSG00000260880		"""Long non-coding RNAs"""	48612	non-coding RNA	RNA, long non-coding	"""hepatoma associated gene"""	615613				20130911, 23314567	Standard	NR_027756		Approved	HTA, FJ222407			OTTHUMG00000172964		16.37:g.73127098C>A								NR_027756.1						0	756	+									RNA	SNP	ENST00000569990.2	37																																																																																						0.542	HCCAT5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000440524.1	NR_027756		4	75	1	0	0.014758	1	0.0153046	4	75				
CDH4	1002	broad.mit.edu	37	20	60448849	60448849	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:60448849C>T	ENST00000360469.5	+	7	1031	c.943C>T	c.(943-945)Cgg>Tgg	p.R315W	CDH4_ENST00000543233.1_Missense_Mutation_p.R241W	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	315	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R315W(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGGGATGGTGCGGTACCGGAT	0.612																																						ENST00000360469.5																			1	Substitution - Missense(1)	p.R315W(1)	large_intestine(1)	NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(943-945)Cgg>Tgg		cadherin 4, type 1, R-cadherin (retinal)							160.0	124.0	136.0					20																	60448849		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60448849C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.943C>T	20.37:g.60448849C>T	ENSP00000353656:p.Arg315Trp					CDH4_ENST00000543233.1_Missense_Mutation_p.R241W	p.R315W	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		7	1031	+			315			Cadherin 2.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.943C>T	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684470	0.68157	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.54866	0.55;0.55	4.92	1.43	0.22495	Cadherin (4);Cadherin-like (1);	0.230798	0.40640	N	0.001048	T	0.75657	0.3879	M	0.93550	3.43	0.39684	D	0.970949	D	0.89917	1.0	D	0.66351	0.943	T	0.82406	-0.0473	9	.	.	.	.	12.8927	0.58080	0.7422:0.2578:0.0:0.0	.	315	P55283	CADH4_HUMAN	W	315;223;241	ENSP00000353656:R315W;ENSP00000443301:R241W	.	R	+	1	2	CDH4	59882244	1.000000	0.71417	0.978000	0.43139	0.759000	0.43091	1.829000	0.39121	0.433000	0.26313	0.585000	0.79938	CGG		0.612	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		6	113	0	0	0	1	0	6	113				
EIF2S3	1968	broad.mit.edu	37	X	24084113	24084113	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:24084113A>T	ENST00000253039.4	+	8	1025		c.e8-1			NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						GTTTTATTTTAGTTATTAGAT	0.303																																						ENST00000253039.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						c.e8-1		eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa							111.0	108.0	109.0					X																	24084113		2203	4299	6502	SO:0001630	splice_region_variant	1968					cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chrX:24084113A>T	L19161	CCDS14210.1	Xp22.2-p22.1	2008-07-31	2002-08-29		ENSG00000130741	ENSG00000130741			3267	protein-coding gene	gene with protein product	"""eukaryotic translation initiation factor 2G"""	300161	"""eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)"""	EIF2G		8106381, 9736774	Standard	NM_001415		Approved	EIF2gamma, EIF2	uc004dbc.3	P41091	OTTHUMG00000021262	ENST00000253039.4:c.773-1A>T	X.37:g.24084113A>T								NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN			8	1025	+								B5BTZ4	Splice_Site	SNP	ENST00000253039.4	37		CCDS14210.1	.	.	.	.	.	.	.	.	.	.	N	21.4	4.143064	0.77888	.	.	ENSG00000130741	ENST00000253039	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.804	0.69938	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF2S3	23994034	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	8.840000	0.92125	1.946000	0.56461	0.438000	0.28831	.		0.303	EIF2S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056079.1	NM_001415	Intron	7	61	0	0	0	1	0	7	61				
DDX24	57062	broad.mit.edu	37	14	94526868	94526868	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:94526868A>T	ENST00000330836.5	-	5	1620	c.1489T>A	c.(1489-1491)Tac>Aac	p.Y497N	DDX24_ENST00000555054.1_Missense_Mutation_p.Y454N|DDX24_ENST00000544005.1_Missense_Mutation_p.Y247N	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	497	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TTTGGGTTGTATTGGGAGTCA	0.498																																						ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(1489-1491)Tac>Aac		DEAD (Asp-Glu-Ala-Asp) box helicase 24							144.0	133.0	137.0					14																	94526868		2203	4300	6503	SO:0001583	missense	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94526868A>T	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.1489T>A	14.37:g.94526868A>T	ENSP00000328690:p.Tyr497Asn					DDX24_ENST00000555054.1_Missense_Mutation_p.Y454N|DDX24_ENST00000544005.1_Missense_Mutation_p.Y247N	p.Y497N	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	5	1620	-		all_cancers(154;0.12)	497			Helicase ATP-binding.		E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	c.1489T>A	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	A	14.32	2.500398	0.44455	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000543787;ENST00000555054;ENST00000542247	T;T;T	0.03330	4.06;3.97;4.06	5.45	5.45	0.79879	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.055782	0.85682	D	0.000000	T	0.03871	0.0109	N	0.20685	0.6	0.50171	D	0.999855	B	0.09022	0.002	B	0.19946	0.027	T	0.52003	-0.8633	10	0.36615	T	0.2	-12.4702	15.8213	0.78648	1.0:0.0:0.0:0.0	.	497	Q9GZR7	DDX24_HUMAN	N	497;247;442;123;454;454	ENSP00000328690:Y497N;ENSP00000440623:Y247N;ENSP00000452145:Y454N	ENSP00000328690:Y497N	Y	-	1	0	DDX24	93596621	1.000000	0.71417	0.990000	0.47175	0.956000	0.61745	7.160000	0.77495	2.192000	0.70111	0.460000	0.39030	TAC		0.498	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		6	431	0	0	0	1	0	6	431				
DAPL1	92196	broad.mit.edu	37	2	159672329	159672329	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:159672329G>T	ENST00000309950.3	+	4	376	c.320G>T	c.(319-321)tGt>tTt	p.C107F	DAPL1_ENST00000409042.1_Intron	NM_001017920.2	NP_001017920.2	A0PJW8	DAPL1_HUMAN	death associated protein-like 1	107					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)					prostate(1)	1						CCTCGAAAATGTTAAGCCTGG	0.478																																						ENST00000309950.3																			0				prostate(1)	1						c.(319-321)tGt>tTt		death associated protein-like 1							86.0	80.0	82.0					2																	159672329		2203	4300	6503	SO:0001583	missense	92196				apoptosis|cell differentiation			g.chr2:159672329G>T		CCDS33307.1	2q24	2007-06-26			ENSG00000163331	ENSG00000163331			21490	protein-coding gene	gene with protein product							Standard	NM_001017920		Approved		uc002uaf.3	A0PJW8	OTTHUMG00000153970	ENST00000309950.3:c.320G>T	2.37:g.159672329G>T	ENSP00000309538:p.Cys107Phe					DAPL1_ENST00000409042.1_Intron	p.C107F	NM_001017920.2	NP_001017920.2	A0PJW8	DAPL1_HUMAN			4	376	+			107					A0PJW9|B9EIK6	Missense_Mutation	SNP	ENST00000309950.3	37	c.320G>T	CCDS33307.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685777	0.68157	.	.	ENSG00000163331	ENST00000309950	T	0.40476	1.03	5.58	4.7	0.59300	.	0.107287	0.64402	D	0.000005	T	0.41858	0.1177	N	0.24115	0.695	0.80722	D	1	D	0.54047	0.964	P	0.53954	0.738	T	0.37776	-0.9691	10	0.87932	D	0	.	12.7345	0.57216	0.0819:0.0:0.9181:0.0	.	107	A0PJW8	DAPL1_HUMAN	F	107	ENSP00000309538:C107F	ENSP00000309538:C107F	C	+	2	0	DAPL1	159380575	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.316000	0.59178	2.641000	0.89580	0.563000	0.77884	TGT		0.478	DAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333265.1	NM_001017920		7	110	1	0	2.10051e-16	1	2.42725e-16	7	110				
OR13C8	138802	broad.mit.edu	37	9	107331538	107331538	+	Silent	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:107331538A>T	ENST00000335040.1	+	1	90	c.90A>T	c.(88-90)ctA>ctT	p.L30L		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TCTTCGTTCTAATTTTGTGGA	0.433																																						ENST00000335040.1																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						c.(88-90)ctA>ctT		olfactory receptor, family 13, subfamily C, member 8							232.0	225.0	227.0					9																	107331538		2203	4300	6503	SO:0001819	synonymous_variant	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107331538A>T		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.90A>T	9.37:g.107331538A>T							p.L30L	NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN			1	90	+			30					Q5VVG0|Q96R44	Silent	SNP	ENST00000335040.1	37	c.90A>T	CCDS35090.1																																																																																				0.433	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			6	394	0	0	0	1	0	6	394				
C2orf16	84226	broad.mit.edu	37	2	27800205	27800205	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:27800205C>T	ENST00000408964.2	+	1	817	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	256						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TATGAAGCCACTGCAGCAAAC	0.448																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(766-768)Ctg>Ttg		chromosome 2 open reading frame 16							96.0	93.0	94.0					2																	27800205		1939	4122	6061	SO:0001819	synonymous_variant	84226							g.chr2:27800205C>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.766C>T	2.37:g.27800205C>T							p.L256L	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	817	+	Acute lymphoblastic leukemia(172;0.155)		256					B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	c.766C>T	CCDS42666.1																																																																																				0.448	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		3	141	0	0	0	1	0	3	141				
TMC1	117531	broad.mit.edu	37	9	75404083	75404083	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:75404083C>T	ENST00000297784.5	+	15	1614	c.1074C>T	c.(1072-1074)gtC>gtT	p.V358V	TMC1_ENST00000340019.3_Silent_p.V358V|TMC1_ENST00000396237.3_Silent_p.V358V	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	358					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						AAGAAAACGTCCACTTGATCA	0.413																																					Pancreas(75;173 1345 14232 34245 43413)	ENST00000297784.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1072-1074)gtC>gtT		transmembrane channel-like 1							118.0	109.0	112.0					9																	75404083		2203	4300	6503	SO:0001819	synonymous_variant	117531				sensory perception of sound	integral to membrane		g.chr9:75404083C>T	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.1074C>T	9.37:g.75404083C>T						TMC1_ENST00000340019.3_Silent_p.V358V|TMC1_ENST00000396237.3_Silent_p.V358V	p.V358V	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN			15	1614	+			358					A8MVZ2|B1AM91	Silent	SNP	ENST00000297784.5	37	c.1074C>T	CCDS6643.1																																																																																				0.413	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			6	250	0	0	0	1	0	6	250				
WHSC1	7468	broad.mit.edu	37	4	1955186	1955186	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:1955186G>A	ENST00000382895.3	+	14	2704	c.2273G>A	c.(2272-2274)cGc>cAc	p.R758H	WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382891.5_Missense_Mutation_p.R758H|WHSC1_ENST00000382892.2_Missense_Mutation_p.R758H|WHSC1_ENST00000382888.3_Missense_Mutation_p.R106H|WHSC1_ENST00000508803.1_Missense_Mutation_p.R758H	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	758					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CGAGGTTTCCGCTGCCCCCTC	0.517			T	IGH@	MM																																	ENST00000382895.3				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(2272-2274)cGc>cAc		Wolf-Hirschhorn syndrome candidate 1							139.0	151.0	147.0					4																	1955186		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1955186G>A	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.2273G>A	4.37:g.1955186G>A	ENSP00000372351:p.Arg758His					WHSC1_ENST00000382891.5_Missense_Mutation_p.R758H|WHSC1_ENST00000382892.2_Missense_Mutation_p.R758H|WHSC1_ENST00000382888.3_Missense_Mutation_p.R106H|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000508803.1_Missense_Mutation_p.R758H	p.R758H	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	14	2704	+		all_epithelial(65;1.34e-05)	758					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.2273G>A	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	G	36	5.620493	0.96660	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	D;D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94;-3.94	5.67	5.67	0.87782	Zinc finger, RING-type (2);Zinc finger, PHD-type (1);	0.000000	0.56097	D	0.000027	D	0.98229	0.9414	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.96;0.997	D	0.98498	1.0613	10	0.59425	D	0.04	.	19.7501	0.96265	0.0:0.0:1.0:0.0	.	106;758	A2A2T2;O96028	.;NSD2_HUMAN	H	758;758;758;758;106	ENSP00000423972:R758H;ENSP00000372347:R758H;ENSP00000372348:R758H;ENSP00000372351:R758H;ENSP00000372344:R106H	ENSP00000372344:R106H	R	+	2	0	WHSC1	1924984	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.602000	0.98312	2.672000	0.90937	0.655000	0.94253	CGC		0.517	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		9	445	0	0	0	1	0	9	445				
HSD17B2	3294	broad.mit.edu	37	16	82131925	82131925	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:82131925C>T	ENST00000199936.4	+	5	1241	c.1048C>T	c.(1048-1050)Ctt>Ttt	p.L350F	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	350					in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|response to retinoic acid (GO:0032526)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						GTGGATCTGCCTTGCTCACTA	0.483																																						ENST00000199936.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(1048-1050)Ctt>Ttt		hydroxysteroid (17-beta) dehydrogenase 2	NADH(DB00157)						162.0	146.0	152.0					16																	82131925		2201	4300	6501	SO:0001583	missense	3294				response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr16:82131925C>T		CCDS10936.1	16q24.1-q24.2	2011-09-14			ENSG00000086696	ENSG00000086696	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5211	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 2"""	109685				7759109, 19027726	Standard	NM_002153		Approved	HSD17, SDR9C2	uc002fgv.3	P37059	OTTHUMG00000137631	ENST00000199936.4:c.1048C>T	16.37:g.82131925C>T	ENSP00000199936:p.Leu350Phe					RP11-510J16.5_ENST00000567021.1_RNA	p.L350F	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN			5	1241	+			350					B2R7T4	Missense_Mutation	SNP	ENST00000199936.4	37	c.1048C>T	CCDS10936.1	.	.	.	.	.	.	.	.	.	.	c	9.577	1.122454	0.20877	.	.	ENSG00000086696	ENST00000199936	T	0.46063	0.88	5.57	-9.13	0.00704	NAD(P)-binding domain (1);	2.396640	0.01113	N	0.005610	T	0.16342	0.0393	N	0.05534	-0.03	0.09310	N	1	B	0.12630	0.006	B	0.14578	0.011	T	0.09751	-1.0660	10	0.28530	T	0.3	.	0.6444	0.00816	0.4215:0.1611:0.1824:0.235	.	350	P37059	DHB2_HUMAN	F	350	ENSP00000199936:L350F	ENSP00000199936:L350F	L	+	1	0	HSD17B2	80689426	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.372000	0.02570	-1.335000	0.02241	-0.290000	0.09829	CTT		0.483	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269057.2	NM_002153		105	176	0	0	0	1	0	105	176				
FGG	2266	broad.mit.edu	37	4	155533589	155533589	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:155533589T>A	ENST00000336098.3	-	2	117		c.e2-2		FGG_ENST00000404648.3_Splice_Site|FGG_ENST00000407946.1_Splice_Site|FGG_ENST00000405164.1_Splice_Site	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain						blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AGCAACATACTAAAAGAGAAA	0.358																																						ENST00000404648.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.e2-2		fibrinogen gamma chain	Sucralfate(DB00364)						104.0	115.0	111.0					4																	155533589		2199	4299	6498	SO:0001630	splice_region_variant	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155533589T>A		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.79-2A>T	4.37:g.155533589T>A						FGG_ENST00000336098.3_Splice_Site|FGG_ENST00000407946.1_Splice_Site|FGG_ENST00000405164.1_Splice_Site		NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN			2	318	-	all_hematologic(180;0.215)	Renal(120;0.0458)						A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Splice_Site	SNP	ENST00000336098.3	37		CCDS3788.1	.	.	.	.	.	.	.	.	.	.	T	18.12	3.552707	0.65425	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2127	0.82178	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FGG	155753039	1.000000	0.71417	0.940000	0.37924	0.833000	0.47200	5.924000	0.70054	2.236000	0.73375	0.533000	0.62120	.		0.358	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870	Intron	7	112	0	0	0	1	0	7	112				
DNM1P47	100216544	broad.mit.edu	37	15	102292832	102292832	+	RNA	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:102292832G>C	ENST00000561463.1	+	0	878									DNM1 pseudogene 47																		GAAGACACTCGTGGAGGCGTC	0.597																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102292832G>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292832G>C														0	878	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		2	6	0	0	0	1	0	2	6				
ANGEL2	90806	broad.mit.edu	37	1	213178426	213178426	+	Silent	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:213178426A>G	ENST00000366962.3	-	5	1237	c.1083T>C	c.(1081-1083)taT>taC	p.Y361Y	ANGEL2_ENST00000360506.2_Silent_p.Y192Y|ANGEL2_ENST00000473303.1_5'Flank|ANGEL2_ENST00000540642.1_Silent_p.Y235Y|ANGEL2_ENST00000535388.1_Silent_p.Y192Y|ANGEL2_ENST00000544555.1_Silent_p.Y192Y	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	361										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TTATGAAACTATATAGTGGAG	0.408																																						ENST00000366962.3																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24						c.(1081-1083)taT>taC		angel homolog 2 (Drosophila)							69.0	69.0	69.0					1																	213178426		2203	4300	6503	SO:0001819	synonymous_variant	90806							g.chr1:213178426A>G	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.1083T>C	1.37:g.213178426A>G						ANGEL2_ENST00000360506.2_Silent_p.Y192Y|ANGEL2_ENST00000544555.1_Silent_p.Y192Y|ANGEL2_ENST00000540642.1_Silent_p.Y235Y|ANGEL2_ENST00000535388.1_Silent_p.Y192Y	p.Y361Y	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	5	1237	-			361					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Silent	SNP	ENST00000366962.3	37	c.1083T>C	CCDS1512.1																																																																																				0.408	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		87	61	0	0	0	1	0	87	61				
HNRNPU	3192	broad.mit.edu	37	1	245022119	245022119	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:245022119T>C	ENST00000283179.9	-	6	1305	c.1142A>G	c.(1141-1143)tAt>tGt	p.Y381C	HNRNPU_ENST00000444376.2_Missense_Mutation_p.Y362C			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	381	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTTTAGAGAATACCCATAAGA	0.289																																					NSCLC(33;911 1010 3329 23631 49995)	ENST00000444376.2																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1084-1086)tAt>tGt		heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)							94.0	91.0	92.0					1																	245022119		2201	4297	6498	SO:0001583	missense	3192				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	g.chr1:245022119T>C	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1142A>G	1.37:g.245022119T>C	ENSP00000283179:p.Tyr381Cys					HNRNPU_ENST00000283179.9_Missense_Mutation_p.Y381C	p.Y362C	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		6	1319	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		381			B30.2/SPRY.		O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	ENST00000283179.9	37	c.1085A>G	CCDS41479.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.187252	0.78789	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948;ENST00000440865	T;T;T	0.76709	-1.04;-1.04;-1.04	5.79	5.79	0.91817	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.91962	0.7454	H	0.96208	3.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.988;0.997;0.999;0.979	D	0.94362	0.7588	10	0.87932	D	0	-10.4673	16.1169	0.81309	0.0:0.0:0.0:1.0	.	306;362;381;105	B3KX72;Q00839-2;Q00839;Q5RI19	.;.;HNRPU_HUMAN;.	C	362;381;306;158	ENSP00000393151:Y362C;ENSP00000283179:Y381C;ENSP00000410728:Y158C	ENSP00000283179:Y381C	Y	-	2	0	HNRNPU	243088742	1.000000	0.71417	0.996000	0.52242	0.864000	0.49448	6.174000	0.71943	2.205000	0.71048	0.482000	0.46254	TAT		0.289	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		6	15	0	0	0	1	0	6	15				
GRSF1	2926	broad.mit.edu	37	4	71693661	71693661	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:71693661T>G	ENST00000254799.6	-	6	1160	c.1043A>C	c.(1042-1044)aAg>aCg	p.K348T	GRSF1_ENST00000439371.1_Missense_Mutation_p.K186T|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000545193.1_Missense_Mutation_p.K230T|GRSF1_ENST00000502323.1_Missense_Mutation_p.K186T	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	348					anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			AGTTATATACTTAGCAGTAGG	0.373																																						ENST00000254799.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17						c.(1042-1044)aAg>aCg		G-rich RNA sequence binding factor 1							194.0	191.0	192.0					4																	71693661		1860	4096	5956	SO:0001583	missense	2926				mRNA polyadenylation		mRNA binding|nucleotide binding	g.chr4:71693661T>G	BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"""RNA binding motif (RRM) containing"""	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.1043A>C	4.37:g.71693661T>G	ENSP00000254799:p.Lys348Thr					GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000545193.1_Missense_Mutation_p.K230T|GRSF1_ENST00000439371.1_Missense_Mutation_p.K186T|GRSF1_ENST00000502323.1_Missense_Mutation_p.K186T	p.K348T	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	Lung(101;0.235)		6	1160	-		all_hematologic(202;0.21)	348					B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Missense_Mutation	SNP	ENST00000254799.6	37	c.1043A>C	CCDS47069.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.1|25.1	4.598946|4.598946	0.87055|0.87055	.|.	.|.	ENSG00000132463|ENSG00000132463	ENST00000254799;ENST00000439371;ENST00000540657;ENST00000499044;ENST00000502323;ENST00000545193|ENST00000514161	T;T;T;T;T|.	0.19532|.	2.14;2.21;2.14;2.21;2.22|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.510962|.	0.22261|.	N|.	0.062402|.	T|T	0.57475|0.57475	0.2056|0.2056	L|L	0.27053|0.27053	0.805|0.805	0.41257|0.41257	D|D	0.986752|0.986752	D;P|.	0.54601|.	0.967;0.931|.	B;B|.	0.44224|.	0.432;0.444|.	T|T	0.60546|0.60546	-0.7242|-0.7242	10|6	0.14656|0.54805	T|T	0.56|0.06	-11.1592|-11.1592	15.6176|15.6176	0.76780|0.76780	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	261;348|.	B7Z5F9;Q12849|.	.;GRSF1_HUMAN|.	T|R	348;186;280;321;186;230|285	ENSP00000254799:K348T;ENSP00000389219:K186T;ENSP00000427354:K321T;ENSP00000425430:K186T;ENSP00000443380:K230T|.	ENSP00000254799:K348T|ENSP00000427644:S113R	K|S	-|-	2|1	0|0	GRSF1|GRSF1	71912525|71912525	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	2.431000|2.431000	0.44775|0.44775	2.330000|2.330000	0.79161|0.79161	0.477000|0.477000	0.44152|0.44152	AAG|AGT		0.373	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	NM_002092		79	139	0	0	0	1	0	79	139				
FOXK2	3607	broad.mit.edu	37	17	80521382	80521382	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:80521382C>A	ENST00000335255.5	+	2	746	c.572C>A	c.(571-573)gCc>gAc	p.A191D		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	191					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			GACACCATGGCCCACCTCATC	0.612																																						ENST00000335255.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17						c.(571-573)gCc>gAc		forkhead box K2							145.0	90.0	109.0					17																	80521382		2203	4300	6503	SO:0001583	missense	3607				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:80521382C>A	U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"""Forkhead boxes"""	6036	protein-coding gene	gene with protein product		147685	"""interleukin enhancer binding factor 1"""	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.572C>A	17.37:g.80521382C>A	ENSP00000335677:p.Ala191Asp						p.A191D	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)		2	746	+	Breast(20;0.00106)|all_neural(118;0.0952)		191					A6NEP5|Q13622|Q13623|Q13624	Missense_Mutation	SNP	ENST00000335255.5	37	c.572C>A	CCDS11813.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492990	0.64186	.	.	ENSG00000141568	ENST00000535184;ENST00000335255;ENST00000335241;ENST00000531030;ENST00000526383	D;D;D	0.95885	-3.28;-3.84;-3.59	5.64	5.64	0.86602	.	0.058448	0.64402	D	0.000002	D	0.96402	0.8826	L	0.42245	1.32	0.80722	D	1	P;B;D	0.65815	0.511;0.349;0.995	B;B;D	0.65233	0.17;0.168;0.933	D	0.95482	0.8561	10	0.36615	T	0.2	.	19.7003	0.96050	0.0:1.0:0.0:0.0	.	191;191;191	Q01167-3;Q01167;Q01167-2	.;FOXK2_HUMAN;.	D	187;191;191;2;71	ENSP00000335677:A191D;ENSP00000433167:A2D;ENSP00000432663:A71D	ENSP00000334321:A191D	A	+	2	0	FOXK2	78114671	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.671000	0.83941	2.657000	0.90304	0.655000	0.94253	GCC		0.612	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2	NM_181430		6	205	1	0	1	1	1	6	205				
ACVR1B	91	broad.mit.edu	37	12	52385669	52385669	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:52385669G>A	ENST00000257963.4	+	8	1361	c.1284G>A	c.(1282-1284)ctG>ctA	p.L428L	ACVR1B_ENST00000542485.1_Silent_p.L376L|ACVR1B_ENST00000426655.2_Silent_p.L428L|ACVR1B_ENST00000541224.1_Silent_p.L469L|ACVR1B_ENST00000563121.1_3'UTR	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	428	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	AATATCAGCTGCCATATTACG	0.463																																						ENST00000257963.4																			0				breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44						c.(1282-1284)ctG>ctA		activin A receptor, type IB	Adenosine triphosphate(DB00171)						164.0	153.0	157.0					12																	52385669		2203	4300	6503	SO:0001819	synonymous_variant	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52385669G>A		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1284G>A	12.37:g.52385669G>A						ACVR1B_ENST00000542485.1_Silent_p.L376L|ACVR1B_ENST00000426655.2_Silent_p.L428L|ACVR1B_ENST00000563121.1_3'UTR|ACVR1B_ENST00000541224.1_Silent_p.L469L	p.L428L	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	8	1361	+			428			Protein kinase.		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Silent	SNP	ENST00000257963.4	37	c.1284G>A	CCDS8816.1																																																																																				0.463	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		7	356	0	0	0	1	0	7	356				
SRRM1	10250	broad.mit.edu	37	1	24975507	24975507	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:24975507T>A	ENST00000323848.9	+	4	707	c.392T>A	c.(391-393)aTa>aAa	p.I131K	SRRM1_ENST00000374389.4_Missense_Mutation_p.I131K|SRRM1_ENST00000447431.2_Missense_Mutation_p.I131K|SRRM1_ENST00000537199.1_Missense_Mutation_p.I30K|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	131	Necessary for DNA and RNA-binding.|Necessary for mRNA 3'-end cleavage and cytoplasmic accumulation.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		AAAGAAGAAATAAAACAAAGA	0.438																																					Ovarian(68;897 1494 3282 17478)	ENST00000323848.9																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36						c.(391-393)aTa>aAa		serine/arginine repetitive matrix 1							82.0	90.0	87.0					1																	24975507		2203	4300	6503	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24975507T>A	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.392T>A	1.37:g.24975507T>A	ENSP00000326261:p.Ile131Lys					SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.I131K|SRRM1_ENST00000374389.4_Missense_Mutation_p.I131K|SRRM1_ENST00000537199.1_Missense_Mutation_p.I30K	p.I131K	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	4	707	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	131			Necessary for DNA and RNA-binding.|Necessary for mRNA 3'-end cleavage and cytoplasmic accumulation.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.392T>A	CCDS255.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.988257	0.74589	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389;ENST00000537199	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.68	5.68	0.88126	Splicing factor PWI (2);	0.000000	0.64402	D	0.000005	T	0.64864	0.2637	M	0.63843	1.955	0.80722	D	1	P;P	0.42357	0.777;0.669	D;D	0.74348	0.983;0.961	T	0.65861	-0.6065	10	0.87932	D	0	-2.9818	16.2237	0.82280	0.0:0.0:0.0:1.0	.	131;131	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	K	131;131;131;30	ENSP00000326261:I131K;ENSP00000391430:I131K;ENSP00000363510:I131K;ENSP00000441776:I30K	ENSP00000326261:I131K	I	+	2	0	SRRM1	24848094	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.773000	0.85462	2.289000	0.77006	0.482000	0.46254	ATA		0.438	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		5	101	0	0	0	1	0	5	101				
WARS	7453	broad.mit.edu	37	14	100828168	100828168	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:100828168G>T	ENST00000355338.2	-	3	808	c.190C>A	c.(190-192)Cca>Aca	p.P64T	WARS_ENST00000392882.2_Missense_Mutation_p.P64T|WARS_ENST00000557135.1_Missense_Mutation_p.P64T|WARS_ENST00000344102.5_Missense_Mutation_p.P23T|WARS_ENST00000556645.1_Missense_Mutation_p.P23T|WARS_ENST00000358655.4_Missense_Mutation_p.P23T|WARS_ENST00000554084.1_5'UTR	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	64	WHEP-TRS. {ECO:0000255|PROSITE- ProRule:PRU00531}.				angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	GGGTTCCCTGGAGGACAGTCA	0.493																																						ENST00000355338.2																			0				breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(190-192)Cca>Aca		tryptophanyl-tRNA synthetase	L-Tryptophan(DB00150)						199.0	189.0	192.0					14																	100828168		2203	4300	6503	SO:0001583	missense	7453				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	g.chr14:100828168G>T	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12729	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 1, cytoplasmic"""	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.190C>A	14.37:g.100828168G>T	ENSP00000347495:p.Pro64Thr					WARS_ENST00000554084.1_5'UTR|WARS_ENST00000344102.5_Missense_Mutation_p.P23T|WARS_ENST00000556645.1_Missense_Mutation_p.P23T|WARS_ENST00000557135.1_Missense_Mutation_p.P64T|WARS_ENST00000392882.2_Missense_Mutation_p.P64T|WARS_ENST00000358655.4_Missense_Mutation_p.P23T	p.P64T	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN			3	808	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	64			WHEP-TRS.		A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	ENST00000355338.2	37	c.190C>A	CCDS9960.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.721753	0.48728	.	.	ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645;ENST00000553395;ENST00000556504;ENST00000557722;ENST00000557297;ENST00000556435;ENST00000556338;ENST00000556698;ENST00000553524;ENST00000555410;ENST00000554772;ENST00000556660;ENST00000553413;ENST00000553769;ENST00000553545;ENST00000554820;ENST00000554509;ENST00000556209;ENST00000554605	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47528	0.84;0.96;0.84;0.96;0.84;0.96;0.88;0.87;0.84;0.91;0.91;0.91;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.91	5.91	0.95273	WHEP-TRS (2);S15/NS1, RNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.46946	0.1419	L	0.48877	1.53	0.80722	D	1	B	0.13594	0.008	B	0.16289	0.015	T	0.26744	-1.0094	10	0.44086	T	0.13	-1.3921	20.2985	0.98592	0.0:0.0:1.0:0.0	.	64	P23381	SYWC_HUMAN	T	64;23;64;23;64;23;23;23;64;23;23;23;64;64;98;64;64;64;64;64;64;98;64;64	ENSP00000376620:P64T;ENSP00000351481:P23T;ENSP00000347495:P64T;ENSP00000339485:P23T;ENSP00000451460:P64T;ENSP00000451887:P23T;ENSP00000451490:P23T;ENSP00000451251:P23T;ENSP00000450500:P64T;ENSP00000451599:P23T;ENSP00000452519:P23T;ENSP00000451544:P23T;ENSP00000450427:P64T;ENSP00000451349:P64T;ENSP00000450934:P98T;ENSP00000451469:P64T;ENSP00000451402:P64T;ENSP00000452550:P64T;ENSP00000451906:P64T;ENSP00000451716:P64T;ENSP00000450563:P64T;ENSP00000451894:P98T;ENSP00000451027:P64T;ENSP00000450978:P64T	ENSP00000339485:P23T	P	-	1	0	WARS	99897921	1.000000	0.71417	0.972000	0.41901	0.194000	0.23727	7.504000	0.81646	2.793000	0.96121	0.655000	0.94253	CCA		0.493	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		13	341	1	0	1.5842e-08	1	1.74742e-08	13	341				
UBR2	23304	broad.mit.edu	37	6	42541500	42541500	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:42541500G>A	ENST00000372899.1	+	2	365	c.107G>A	c.(106-108)aGa>aAa	p.R36K	UBR2_ENST00000372901.1_Missense_Mutation_p.R36K|UBR2_ENST00000372903.2_Missense_Mutation_p.R36K	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	36					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GACCTCACTAGAGAAGTGTAC	0.403																																						ENST00000372899.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(106-108)aGa>aAa		ubiquitin protein ligase E3 component n-recognin 2							87.0	88.0	88.0					6																	42541500		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42541500G>A	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.107G>A	6.37:g.42541500G>A	ENSP00000361990:p.Arg36Lys					UBR2_ENST00000372901.1_Missense_Mutation_p.R36K|UBR2_ENST00000372903.2_Missense_Mutation_p.R36K	p.R36K	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		2	365	+	Colorectal(47;0.196)		36					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.107G>A	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	7.490	0.650466	0.14516	.	.	ENSG00000024048	ENST00000372903;ENST00000372899;ENST00000372901	T;T;T	0.70986	-0.53;0.47;0.47	5.58	3.8	0.43715	.	0.160180	0.56097	D	0.000030	T	0.23410	0.0566	N	0.14661	0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.29731	-1.0002	10	0.05351	T	0.99	-12.9543	6.9564	0.24574	0.3809:0.0:0.6191:0.0	.	36;36	Q8IWV8;Q8IWV8-2	UBR2_HUMAN;.	K	36	ENSP00000361994:R36K;ENSP00000361990:R36K;ENSP00000361992:R36K	ENSP00000361990:R36K	R	+	2	0	UBR2	42649478	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.504000	0.53347	0.819000	0.34492	0.655000	0.94253	AGA		0.403	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		324	162	0	0	0	1	0	324	162				
MRC2	9902	broad.mit.edu	37	17	60766001	60766001	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:60766001C>T	ENST00000303375.5	+	22	3603	c.3201C>T	c.(3199-3201)agC>agT	p.S1067S	MRC2_ENST00000446119.2_Missense_Mutation_p.A13V	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1067	C-type lectin 6. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CTGGCCCTAGCCCTGCTCCCA	0.637																																						ENST00000446119.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(37-39)gCc>gTc		mannose receptor, C type 2							60.0	62.0	62.0					17																	60766001		2203	4300	6503	SO:0001819	synonymous_variant	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60766001C>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.3201C>T	17.37:g.60766001C>T						MRC2_ENST00000303375.5_Silent_p.S1067S	p.A13V			Q9UBG0	MRC2_HUMAN			4	1057	+			0					A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.38C>T	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.693950	0.30052	.	.	ENSG00000011028	ENST00000446119	T	0.03358	3.96	4.36	2.37	0.29283	.	.	.	.	.	T	0.03348	0.0097	.	.	.	0.21220	N	0.999758	B	0.02656	0.0	B	0.06405	0.002	T	0.41627	-0.9498	8	0.87932	D	0	-25.6861	4.4249	0.11498	0.2987:0.5293:0.0:0.172	.	13	E7EME3	.	V	13	ENSP00000400445:A13V	ENSP00000400445:A13V	A	+	2	0	MRC2	58119733	0.790000	0.28787	1.000000	0.80357	0.879000	0.50718	0.315000	0.19451	0.468000	0.27243	0.462000	0.41574	GCC		0.637	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			13	140	0	0	0	1	0	13	140				
USP3	9960	broad.mit.edu	37	15	63824841	63824841	+	Intron	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:63824841A>T	ENST00000380324.3	+	2	220				USP3_ENST00000268049.7_Intron|USP3_ENST00000536001.1_Intron|USP3_ENST00000540797.1_Intron|USP3_ENST00000539772.1_Intron|USP3_ENST00000558285.1_Missense_Mutation_p.L12F	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3						DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		TTTTCTTTTTATTAGTGTGCC	0.368																																						ENST00000558285.1																			0				endometrium(3)|large_intestine(7)|lung(4)	14						c.(34-36)ttA>ttT		ubiquitin specific peptidase 3							177.0	164.0	168.0					15																	63824841		2203	4300	6503	SO:0001627	intron_variant	9960				DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr15:63824841A>T	AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"""Ubiquitin-specific peptidases"""	12626	protein-coding gene	gene with protein product		604728	"""ubiquitin specific protease 3"""			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.92-5A>T	15.37:g.63824841A>T						USP3_ENST00000380324.3_Intron|USP3_ENST00000268049.7_Intron|USP3_ENST00000540797.1_Intron|USP3_ENST00000536001.1_Intron|USP3_ENST00000539772.1_Intron	p.L12F			Q9Y6I4	UBP3_HUMAN		GBM - Glioblastoma multiforme(80;0.0187)	1	137	+			0					B4DVU5|F5H1A6|Q8WVD0	Missense_Mutation	SNP	ENST00000380324.3	37	c.36A>T	CCDS32265.1																																																																																				0.368	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1			4	127	0	0	0	1	0	4	127				
FAM9B	171483	broad.mit.edu	37	X	9000465	9000465	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:9000465G>A	ENST00000327220.5	-	3	430	c.66C>T	c.(64-66)aaC>aaT	p.N22N	FAM9B_ENST00000362066.3_Silent_p.N67N|FAM9B_ENST00000428477.1_Silent_p.N22N			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	22						nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				CTGTAAAACGGTTTCTTTCCT	0.398																																						ENST00000362066.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						c.(199-201)aaC>aaT		family with sequence similarity 9, member B							238.0	196.0	210.0					X																	9000465		2203	4300	6503	SO:0001819	synonymous_variant	171483					nucleus		g.chrX:9000465G>A		CCDS14132.1	Xp22.31	2014-02-17			ENSG00000177138	ENSG00000177138			18404	protein-coding gene	gene with protein product	"""testis expressed 39B"""	300478				12213195, 21085121, 21998597, 22936694	Standard	XM_005274456		Approved	TEX39B	uc011mhu.2	Q8IZU0	OTTHUMG00000021114	ENST00000327220.5:c.66C>T	X.37:g.9000465G>A						FAM9B_ENST00000428477.1_Silent_p.N22N|FAM9B_ENST00000327220.5_Silent_p.N22N	p.N67N			Q8IZU0	FAM9B_HUMAN			2	389	-		Hepatocellular(5;0.219)	22					Q0IJ68|Q8N7Z8	Silent	SNP	ENST00000327220.5	37	c.201C>T	CCDS14132.1																																																																																				0.398	FAM9B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055702.2	NM_205849		5	185	0	0	0	1	0	5	185				
SYTL1	84958	broad.mit.edu	37	1	27680218	27680218	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:27680218C>T	ENST00000543823.1	+	14	2026	c.1564C>T	c.(1564-1566)Ctg>Ttg	p.L522L	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Silent_p.L510L			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	522					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CAGCTATGGGCTGCAGGTGCC	0.617																																						ENST00000543823.1																			0				NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12						c.(1564-1566)Ctg>Ttg		synaptotagmin-like 1							38.0	37.0	38.0					1																	27680218		2203	4300	6503	SO:0001819	synonymous_variant	84958				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding	g.chr1:27680218C>T	AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.1564C>T	1.37:g.27680218C>T						SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Silent_p.L510L	p.L522L			Q8IYJ3	SYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	14	2026	+		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)	522					Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Silent	SNP	ENST00000543823.1	37	c.1564C>T	CCDS53286.1																																																																																				0.617	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032872		3	36	0	0	0	1	0	3	36				
MT-ND6	4541	broad.mit.edu	37	M	14556	14556	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrM:14556A>G	ENST00000361681.2	-	1	117	c.118T>C	c.(118-120)Tgt>Cgt	p.C40R	MT-TP_ENST00000387461.2_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA			P03923	NU6M_HUMAN	mitochondrially encoded NADH dehydrogenase 6	40					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						AATAATAACACACCCGACCAC	0.393																																						ENST00000361681.2																			0				breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						c.(118-120)Tgt>Cgt		mitochondrially encoded NADH dehydrogenase 6																																				SO:0001583	missense	4541							g.chrM:14556A>G			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198695	ENSG00000198695	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7462	protein-coding gene	gene with protein product	"""complex I ND6 subunit"", ""NADH-ubiquinone oxidoreductase chain 6"""	516006	"""NADH dehydrogenase 6"""	MTND6			Standard			Approved	NAD6, ND6		P03923		ENST00000361681.2:c.118T>C	M.37:g.14556A>G	ENSP00000354665:p.Cys40Arg						p.C40R							1	117	-								Q34774|Q8HG30	Missense_Mutation	SNP	ENST00000361681.2	37	c.118T>C																																																																																					0.393	MT-ND6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024037		18	0	0	0	0	1	0	18	0				
PKD2	5311	broad.mit.edu	37	4	88967931	88967931	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:88967931A>T	ENST00000237596.2	+	6	1523	c.1457A>T	c.(1456-1458)tAc>tTc	p.Y486F	PKD2_ENST00000508588.1_Intron	NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TTTATCTTTTACTATGTGGTG	0.383																																						ENST00000237596.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36						c.(1456-1458)tAc>tTc		polycystic kidney disease 2 (autosomal dominant)							209.0	193.0	198.0					4																	88967931		2203	4300	6503	SO:0001583	missense	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88967931A>T	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.1457A>T	4.37:g.88967931A>T	ENSP00000237596:p.Tyr486Phe					PKD2_ENST00000508588.1_Intron	p.Y486F	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	6	1523	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	486					Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000237596.2	37	c.1457A>T	CCDS3627.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.486666	0.84854	.	.	ENSG00000118762	ENST00000237596	D	0.96992	-4.2	5.62	5.62	0.85841	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.96219	0.8767	L	0.59967	1.855	0.80722	D	1	B	0.25486	0.127	B	0.40134	0.32	D	0.95130	0.8254	10	0.62326	D	0.03	-20.057	15.8159	0.78599	1.0:0.0:0.0:0.0	.	486	Q13563	PKD2_HUMAN	F	486	ENSP00000237596:Y486F	ENSP00000237596:Y486F	Y	+	2	0	PKD2	89186955	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.296000	0.96104	2.133000	0.65898	0.482000	0.46254	TAC		0.383	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253042.4	NM_000297		9	232	0	0	0	1	0	9	232				
LETMD1	25875	broad.mit.edu	37	12	51447559	51447559	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:51447559A>T	ENST00000262055.4	+	4	429		c.e4-1		LETMD1_ENST00000550929.1_Splice_Site|LETMD1_ENST00000418425.2_Splice_Site|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000380123.2_Intron|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000552739.1_Intron	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1							integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						ATTTCTGCTTAGTTCCGCCAA	0.403																																						ENST00000418425.2																			0				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						c.e4-1		LETM1 domain containing 1							288.0	248.0	262.0					12																	51447559		2203	4300	6503	SO:0001630	splice_region_variant	25875					integral to membrane|mitochondrial outer membrane	protein binding	g.chr12:51447559A>T	AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"""cervical cancer 1 protooncogene"""					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.391-1A>T	12.37:g.51447559A>T						LETMD1_ENST00000550929.1_Splice_Site|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000380123.2_Intron|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000262055.4_Splice_Site		NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN			4	448	+								A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Splice_Site	SNP	ENST00000262055.4	37		CCDS8806.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.207058	0.79127	.	.	ENSG00000050426	ENST00000551477;ENST00000550755;ENST00000550929;ENST00000262055;ENST00000548209;ENST00000550814;ENST00000418425	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5147	0.67811	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LETMD1	49733826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.747000	0.74872	2.330000	0.79161	0.528000	0.53228	.		0.403	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416	Intron	8	536	0	0	0	1	0	8	536				
CDK5RAP3	80279	broad.mit.edu	37	17	46058626	46058626	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:46058626G>T	ENST00000338399.4	+	13	1487	c.1381G>T	c.(1381-1383)Gca>Tca	p.A461S	RP11-6N17.10_ENST00000578239.1_RNA|CDK5RAP3_ENST00000536708.2_Missense_Mutation_p.A486S|CDK5RAP3_ENST00000578663.1_3'UTR	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	461					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						GCAGCAGGAGGCACTTGAGGA	0.567																																						ENST00000536708.2																			0				NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						c.(1456-1458)Gca>Tca		CDK5 regulatory subunit associated protein 3							45.0	47.0	47.0					17																	46058626		1982	4164	6146	SO:0001583	missense	80279				brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding	g.chr17:46058626G>T	AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"""ischemic heart CDK5 activator-binding protein C53"", ""LXXLL/leucine-zipper-containing ARFbinding protein"""	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.1381G>T	17.37:g.46058626G>T	ENSP00000344683:p.Ala461Ser					RP11-6N17.10_ENST00000578239.1_RNA|CDK5RAP3_ENST00000578663.1_3'UTR|CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.A461S	p.A486S	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN			13	1565	+			461					B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Missense_Mutation	SNP	ENST00000338399.4	37	c.1456G>T	CCDS42356.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901757	0.92035	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	T;T	0.50548	0.74;0.74	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.72795	0.3505	M	0.87269	2.87	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.77004	0.982;0.983;0.989;0.983	T	0.72443	-0.4292	10	0.31617	T	0.26	-24.7275	18.2722	0.90072	0.0:0.0:1.0:0.0	.	486;374;461;236	F5H3I5;Q96JB5-2;Q96JB5;Q96JB5-3	.;.;CK5P3_HUMAN;.	S	486;461	ENSP00000438886:A486S;ENSP00000344683:A461S	ENSP00000344683:A461S	A	+	1	0	CDK5RAP3	43413625	1.000000	0.71417	0.977000	0.42913	0.950000	0.60333	8.981000	0.93465	2.612000	0.88384	0.655000	0.94253	GCA		0.567	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096		6	157	1	0	1.26484e-09	1	1.40367e-09	6	157				
CACNB2	783	broad.mit.edu	37	10	18787304	18787304	+	Silent	SNP	G	G	A	rs182163363	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:18787304G>A	ENST00000324631.7	+	4	414	c.354G>A	c.(352-354)gcG>gcA	p.A118A	CACNB2_ENST00000377315.4_Silent_p.A70A|CACNB2_ENST00000377329.4_Silent_p.A64A|CACNB2_ENST00000282343.8_Silent_p.A90A|CACNB2_ENST00000352115.6_Silent_p.A118A|CACNB2_ENST00000377328.1_Silent_p.A118A|CACNB2_ENST00000377319.3_Silent_p.A63A|CACNB2_ENST00000396576.2_Silent_p.A63A|CACNB2_ENST00000377331.2_Silent_p.A90A	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	118	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTGCATTTGCGGTTCGGACAA	0.448													G|||	8	0.00159744	0.0008	0.0029	5008	,	,		19158	0.0		0.0	False		,,,				2504	0.0051					ENST00000396576.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(187-189)gcG>gcA		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)	G	,,,,,,,,	0,4406		0,0,2203	116.0	102.0	107.0		189,270,210,270,270,192,354,354,354	-7.9	1.0	10		107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNB2	NM_000724.3,NM_001167945.1,NM_201570.2,NM_201571.3,NM_201572.3,NM_201590.2,NM_201593.2,NM_201596.2,NM_201597.2	,,,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,,,	63/606,90/595,70/613,90/633,90/609,64/607,118/623,118/661,118/637	18787304	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18787304G>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.354G>A	10.37:g.18787304G>A						CACNB2_ENST00000377319.3_Silent_p.A63A|CACNB2_ENST00000352115.6_Silent_p.A118A|CACNB2_ENST00000377315.4_Silent_p.A70A|CACNB2_ENST00000324631.7_Silent_p.A118A|CACNB2_ENST00000377331.2_Silent_p.A90A|CACNB2_ENST00000282343.8_Silent_p.A90A|CACNB2_ENST00000377329.4_Silent_p.A64A|CACNB2_ENST00000377328.1_Silent_p.A118A	p.A63A	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN			3	690	+			118					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Silent	SNP	ENST00000324631.7	37	c.189G>A	CCDS7125.1																																																																																				0.448	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		3	91	0	0	0	1	0	3	91				
FAM129A	116496	broad.mit.edu	37	1	184801098	184801098	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:184801098T>A	ENST00000367511.3	-	6	795		c.e6-2		FAM129A_ENST00000487074.1_Splice_Site	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A						negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCATGTAATCTAAAGAAAAGA	0.408																																						ENST00000367511.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.e6-2		family with sequence similarity 129, member A							57.0	58.0	57.0					1																	184801098		2203	4300	6503	SO:0001630	splice_region_variant	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184801098T>A	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.602-2A>T	1.37:g.184801098T>A						FAM129A_ENST00000487074.1_Splice_Site		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN			6	795	-								Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Splice_Site	SNP	ENST00000367511.3	37		CCDS1364.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.653291	0.67472	.	.	ENSG00000135842	ENST00000367511	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1381	0.65300	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM129A	183067721	1.000000	0.71417	0.960000	0.40013	0.715000	0.41141	6.165000	0.71891	2.209000	0.71365	0.533000	0.62120	.		0.408	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1		Intron	5	125	0	0	0	1	0	5	125				
SARDH	1757	broad.mit.edu	37	9	136599018	136599018	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:136599018G>A	ENST00000371872.4	-	2	535	c.278C>T	c.(277-279)gCg>gTg	p.A93V	SARDH_ENST00000422262.2_Intron|SARDH_ENST00000371867.1_Missense_Mutation_p.A4V|SARDH_ENST00000439388.1_Missense_Mutation_p.A93V|SARDH_ENST00000298628.5_Missense_Mutation_p.A93V	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	93					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CAGCAGCACCGCCCCACTCAT	0.692																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(277-279)gCg>gTg		sarcosine dehydrogenase							14.0	11.0	12.0					9																	136599018		2190	4290	6480	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136599018G>A		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.278C>T	9.37:g.136599018G>A	ENSP00000360938:p.Ala93Val					SARDH_ENST00000371867.1_Missense_Mutation_p.A4V|SARDH_ENST00000422262.2_Intron|SARDH_ENST00000298628.5_Missense_Mutation_p.A93V|SARDH_ENST00000439388.1_Missense_Mutation_p.A93V	p.A93V	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	2	535	-			93					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.278C>T	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	G	5.728	0.318814	0.10845	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000427237;ENST00000539227;ENST00000535281;ENST00000371867;ENST00000393050;ENST00000298628	T;T;T;T	0.67523	-0.27;-0.27;1.04;-0.27	4.77	2.57	0.30868	FAD dependent oxidoreductase (1);	0.295799	0.31123	N	0.008214	T	0.27731	0.0682	N	0.01289	-0.905	0.23381	N	0.997796	B	0.18461	0.028	B	0.24006	0.05	T	0.37776	-0.9691	10	0.02654	T	1	-18.7046	4.3284	0.11051	0.539:0.0:0.4609:0.0	.	93	Q9UL12	SARDH_HUMAN	V	93;93;93;93;93;4;71;93	ENSP00000360938:A93V;ENSP00000403084:A93V;ENSP00000360933:A4V;ENSP00000298628:A93V	ENSP00000298628:A93V	A	-	2	0	SARDH	135588839	0.625000	0.27111	0.027000	0.17364	0.578000	0.36192	1.950000	0.40323	0.976000	0.38417	0.591000	0.81541	GCG		0.692	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			4	44	0	0	0	1	0	4	44				
AARS	16	broad.mit.edu	37	16	70301574	70301574	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:70301574T>C	ENST00000261772.8	-	9	1353	c.1210A>G	c.(1210-1212)Aag>Gag	p.K404E	AARS_ENST00000564359.1_5'Flank	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		GGAATGGTCTTGCTGTCTCCC	0.512											OREG0023913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261772.8																			0				breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27						c.(1210-1212)Aag>Gag		alanyl-tRNA synthetase	L-Alanine(DB00160)						108.0	96.0	100.0					16																	70301574		2198	4300	6498	SO:0001583	missense	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70301574T>C	D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.1210A>G	16.37:g.70301574T>C	ENSP00000261772:p.Lys404Glu		OREG0023913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121		p.K404E	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	9	1353	-		Ovarian(137;0.0365)	404						Missense_Mutation	SNP	ENST00000261772.8	37	c.1210A>G	CCDS32474.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.646906	0.47258	.	.	ENSG00000090861	ENST00000261772	T	0.58797	0.31	5.81	3.48	0.39840	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.271782	0.46145	D	0.000313	T	0.58764	0.2145	L	0.61387	1.9	0.45097	D	0.998112	B;B	0.20459	0.045;0.025	B;B	0.35353	0.061;0.201	T	0.54682	-0.8257	10	0.46703	T	0.11	-8.4684	11.2899	0.49244	0.0:0.0:0.2894:0.7106	.	412;404	E7ETK8;P49588	.;SYAC_HUMAN	E	404	ENSP00000261772:K404E	ENSP00000261772:K404E	K	-	1	0	AARS	68859075	1.000000	0.71417	0.983000	0.44433	0.684000	0.39900	3.947000	0.56652	0.407000	0.25591	0.533000	0.62120	AAG		0.512	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2	NM_001605		38	35	0	0	0	1	0	38	35				
GALT	2592	broad.mit.edu	37	9	34650390	34650390	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:34650390C>T	ENST00000378842.3	+	11	1126	c.1084C>T	c.(1084-1086)Cct>Tct	p.P362S	IL11RA_ENST00000441545.2_5'Flank|IL11RA_ENST00000555003.1_5'Flank|GALT_ENST00000556278.1_Intron|GALT_ENST00000488412.2_3'UTR|GALT_ENST00000450095.2_Missense_Mutation_p.P253S	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	362					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)|UDP-glucose catabolic process (GO:0006258)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	UDP-glucose:hexose-1-phosphate uridylyltransferase activity (GO:0008108)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		AAGGGCACTTCCTGAGGTTCA	0.522									Galactosemia																													ENST00000378842.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16						c.(1084-1086)Cct>Tct		galactose-1-phosphate uridylyltransferase							99.0	87.0	91.0					9																	34650390		2203	4300	6503	SO:0001583	missense	2592	Galactosemia	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding	g.chr9:34650390C>T	M60091	CCDS6565.1, CCDS59122.1	9p13	2013-01-08			ENSG00000213930	ENSG00000213930	2.7.7.12		4135	protein-coding gene	gene with protein product		606999					Standard	NM_000155		Approved		uc003zve.4	P07902	OTTHUMG00000019836	ENST00000378842.3:c.1084C>T	9.37:g.34650390C>T	ENSP00000368119:p.Pro362Ser					GALT_ENST00000488412.2_3'UTR|GALT_ENST00000556278.1_Intron|GALT_ENST00000450095.2_Missense_Mutation_p.P253S	p.P362S	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	11	1126	+	all_epithelial(49;0.102)		362					B4E097|E7ET32|Q14355|Q14356|Q14357|Q14358|Q14359|Q14360|Q14361|Q14363|Q14364|Q14365|Q14369|Q14370|Q14371|Q14372|Q14373|Q14374|Q14375|Q14377|Q14378|Q14380|Q14381|Q14382|Q14383|Q14384|Q14385|Q14386|Q14387|Q14389|Q16766|Q53XK1|Q5VZ81|Q96BY1	Missense_Mutation	SNP	ENST00000378842.3	37	c.1084C>T	CCDS6565.1	.	.	.	.	.	.	.	.	.	.	C	3.082	-0.188879	0.06299	.	.	ENSG00000213930	ENST00000450095;ENST00000378842	D;D	0.99032	-5.35;-5.35	4.05	4.05	0.47172	Histidine triad motif (1);Galactose-1-phosphate uridyl transferase, C-terminal (1);Histidine triad-like motif (1);	0.211349	0.40064	U	0.001191	D	0.95494	0.8536	N	0.16862	0.45	0.44771	D	0.997774	B;B	0.19331	0.012;0.035	B;B	0.25614	0.023;0.062	D	0.92718	0.6189	10	0.02654	T	1	-6.8326	14.0717	0.64863	0.0:1.0:0.0:0.0	.	253;362	E7ET32;P07902	.;GALT_HUMAN	S	253;362	ENSP00000401956:P253S;ENSP00000368119:P362S	ENSP00000368119:P362S	P	+	1	0	GALT	34640390	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	3.089000	0.50183	2.252000	0.74401	0.561000	0.74099	CCT		0.522	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052231.1	NM_000155		34	118	0	0	0	1	0	34	118				
ZNF462	58499	broad.mit.edu	37	9	109688523	109688523	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:109688523T>G	ENST00000277225.5	+	3	2619	c.2330T>G	c.(2329-2331)aTc>aGc	p.I777S	ZNF462_ENST00000457913.1_Missense_Mutation_p.I777S|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	777					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TTCAGAAACATCACCCACGAT	0.468																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2329-2331)aTc>aGc		zinc finger protein 462							86.0	86.0	86.0					9																	109688523		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109688523T>G	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.2330T>G	9.37:g.109688523T>G	ENSP00000277225:p.Ile777Ser					ZNF462_ENST00000457913.1_Missense_Mutation_p.I777S	p.I777S			Q96JM2	ZN462_HUMAN			3	2619	+			777					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.2330T>G	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	T	8.681	0.905207	0.17760	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.05855	3.38;3.83	5.87	5.87	0.94306	.	0.521615	0.21982	N	0.066283	T	0.05273	0.0140	N	0.14661	0.345	0.80722	D	1	B;B	0.20459	0.045;0.01	B;B	0.22753	0.041;0.029	T	0.49466	-0.8937	9	.	.	.	.	16.2847	0.82712	0.0:0.0:0.0:1.0	.	777;777	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	S	777	ENSP00000277225:I777S;ENSP00000414570:I777S	.	I	+	2	0	ZNF462	108728344	0.997000	0.39634	0.451000	0.26982	0.552000	0.35366	6.351000	0.73022	2.242000	0.73789	0.528000	0.53228	ATC		0.468	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		4	197	0	0	0	1	0	4	197				
GRPR	2925	broad.mit.edu	37	X	16168712	16168712	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:16168712T>A	ENST00000380289.2	+	2	1096	c.698T>A	c.(697-699)aTt>aAt	p.I233N	RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA|RP11-431J24.2_ENST00000422438.1_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	233					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TACTACTTCATTGCTAAAAAT	0.428																																						ENST00000380289.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25						c.(697-699)aTt>aAt		gastrin-releasing peptide receptor							130.0	109.0	116.0					X																	16168712		2203	4300	6503	SO:0001583	missense	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16168712T>A		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.698T>A	X.37:g.16168712T>A	ENSP00000369643:p.Ile233Asn						p.I233N	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN			2	1096	+	Hepatocellular(33;0.183)		233					B2R910	Missense_Mutation	SNP	ENST00000380289.2	37	c.698T>A	CCDS14174.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.347457	0.82022	.	.	ENSG00000126010	ENST00000380289;ENST00000535371	T	0.58060	0.36	5.63	5.63	0.86233	GPCR, rhodopsin-like superfamily (1);	0.049654	0.85682	D	0.000000	T	0.79799	0.4508	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85534	0.1211	10	0.87932	D	0	-12.0435	13.8962	0.63773	0.0:0.0:0.0:1.0	.	233	P30550	GRPR_HUMAN	N	233;22	ENSP00000369643:I233N	ENSP00000369643:I233N	I	+	2	0	GRPR	16078633	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	1.878000	0.54408	0.486000	0.48141	ATT		0.428	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		5	104	0	0	0	1	0	5	104				
MCPH1	79648	broad.mit.edu	37	8	6266851	6266851	+	Nonsense_Mutation	SNP	C	C	G	rs121434305		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:6266851C>G	ENST00000344683.5	+	2	150	c.74C>G	c.(73-75)tCa>tGa	p.S25*	RP11-115C21.2_ENST00000500118.2_RNA|RP11-115C21.2_ENST00000606853.1_RNA|MCPH1_ENST00000522905.1_Nonsense_Mutation_p.S25*|RP11-115C21.2_ENST00000523225.1_RNA|MCPH1_ENST00000519480.1_Nonsense_Mutation_p.S25*	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	25	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GAAAATTATTCAAAGACATTT	0.358																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6	GRCh37	CM021634	MCPH1	M	rs121434305	c.(73-75)tCa>tGa		microcephalin 1		C	stop/SER,stop/SER,stop/SER	0,3754		0,0,1877	157.0	147.0	150.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	74,74,74	5.1	1.0	8	dbSNP_132	150	1,8221		0,1,4110	no	stop-gained,stop-gained,stop-gained	MCPH1	NM_001172574.1,NM_001172575.1,NM_024596.3	,,	0,1,5987	GG,GC,CC		0.0122,0.0,0.0084	,,	25/611,25/563,25/836	6266851	1,11975	1877	4111	5988	SO:0001587	stop_gained	79648					microtubule organizing center		g.chr8:6266851C>G	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.74C>G	8.37:g.6266851C>G	ENSP00000342924:p.Ser25*					MCPH1_ENST00000522905.1_Nonsense_Mutation_p.S25*|MCPH1_ENST00000519480.1_Nonsense_Mutation_p.S25*	p.S25*	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	2	150	+		Hepatocellular(245;0.0663)	25			BRCT 1.		B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Nonsense_Mutation	SNP	ENST00000344683.5	37	c.74C>G	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	C	37	6.350629	0.97498	0.0	1.22E-4	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	.	.	.	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.5541	16.0918	0.81094	0.0:1.0:0.0:0.0	.	.	.	.	X	25	.	ENSP00000342924:S25X	S	+	2	0	MCPH1	6254259	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.496000	0.73670	2.381000	0.81170	0.591000	0.81541	TCA		0.358	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		42	34	0	0	0	1	0	42	34				
PAPD4	167153	broad.mit.edu	37	5	78975478	78975478	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:78975478T>G	ENST00000296783.3	+	14	1584	c.1285T>G	c.(1285-1287)Tac>Gac	p.Y429D	PAPD4_ENST00000428308.2_Missense_Mutation_p.Y429D|PAPD4_ENST00000453514.1_Missense_Mutation_p.Y429D|PAPD4_ENST00000423041.2_Missense_Mutation_p.Y425D|PAPD4_ENST00000504233.1_Missense_Mutation_p.Y386D			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	429	PAP-associated.				hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		GAGAAATAAATACATCTGTGT	0.348																																						ENST00000453514.1																			0				biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1285-1287)Tac>Gac		PAP associated domain containing 4							121.0	108.0	112.0					5																	78975478		2203	4299	6502	SO:0001583	missense	167153				histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity	g.chr5:78975478T>G	AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"""TUTase2"""	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.1285T>G	5.37:g.78975478T>G	ENSP00000296783:p.Tyr429Asp					PAPD4_ENST00000504233.1_Missense_Mutation_p.Y386D|PAPD4_ENST00000423041.2_Missense_Mutation_p.Y425D|PAPD4_ENST00000428308.2_Missense_Mutation_p.Y429D|PAPD4_ENST00000296783.3_Missense_Mutation_p.Y429D	p.Y429D	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)	13	1978	+		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)	429			PAP-associated.		Q86WZ2|Q8N927	Missense_Mutation	SNP	ENST00000296783.3	37	c.1285T>G	CCDS4048.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.122534	0.77436	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000504233;ENST00000428308;ENST00000296783	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	6.06	4.91	0.64330	PAP/25A-associated (1);	0.241545	0.40385	N	0.001114	T	0.56001	0.1956	L	0.50333	1.59	0.40577	D	0.981355	B;P;D	0.57257	0.072;0.584;0.979	B;B;P	0.52159	0.103;0.419;0.691	T	0.55522	-0.8128	10	0.36615	T	0.2	-3.0686	11.9271	0.52825	0.0:0.0672:0.0:0.9328	.	429;425;386	Q6PIY7;Q6PIY7-2;D6RAF2	GLD2_HUMAN;.;.	D	429;425;386;429;429	ENSP00000397563:Y429D;ENSP00000393412:Y425D;ENSP00000421966:Y386D;ENSP00000396861:Y429D;ENSP00000296783:Y429D	ENSP00000296783:Y429D	Y	+	1	0	PAPD4	79011234	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.301000	0.72782	1.119000	0.41883	0.533000	0.62120	TAC		0.348	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226967.1	NM_173797		46	76	0	0	0	1	0	46	76				
KIF7	374654	broad.mit.edu	37	15	90185512	90185512	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:90185512C>A	ENST00000394412.3	-	11	2392	c.2316G>T	c.(2314-2316)aaG>aaT	p.K772N		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	772	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCTGGAGCTCCTTGCCCTCGA	0.692																																						ENST00000394412.3																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25						c.(2314-2316)aaG>aaT		kinesin family member 7							20.0	20.0	20.0					15																	90185512		2198	4298	6496	SO:0001583	missense	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90185512C>A	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.2316G>T	15.37:g.90185512C>A	ENSP00000377934:p.Lys772Asn						p.K772N	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		11	2392	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		772					Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	c.2316G>T	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	c	11.90	1.775859	0.31411	.	.	ENSG00000166813	ENST00000394412	T	0.54675	0.56	4.87	0.834	0.18880	.	0.348482	0.33753	N	0.004589	T	0.44286	0.1286	L	0.58810	1.83	0.23271	N	0.998003	B;B	0.27559	0.119;0.181	B;B	0.31547	0.132;0.102	T	0.31447	-0.9943	10	0.23302	T	0.38	.	8.5016	0.33161	0.0:0.4976:0.0:0.5024	.	258;772	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	N	772	ENSP00000377934:K772N	ENSP00000377934:K772N	K	-	3	2	KIF7	87986516	0.674000	0.27549	0.516000	0.27786	0.690000	0.40134	0.195000	0.17155	0.117000	0.18138	0.306000	0.20318	AAG		0.692	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		8	12	1	0	7.93312e-07	0.002450	8.72038e-07	8	12				
RNF6	6049	broad.mit.edu	37	13	26789216	26789216	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:26789216C>A	ENST00000381588.4	-	5	1555	c.803G>T	c.(802-804)aGg>aTg	p.R268M	RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Missense_Mutation_p.R268M|RNF6_ENST00000381570.3_Missense_Mutation_p.R268M|RNF6_ENST00000399762.2_Intron	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	268					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CTCCCTTTGCCTGAGTTCACT	0.458																																						ENST00000381588.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23						c.(802-804)aGg>aTg		ring finger protein (C3H2C3 type) 6							174.0	161.0	165.0					13																	26789216		2203	4300	6503	SO:0001583	missense	6049				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:26789216C>A	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.803G>T	13.37:g.26789216C>A	ENSP00000371000:p.Arg268Met					RNF6_ENST00000381570.3_Missense_Mutation_p.R268M|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000399762.2_Intron|RNF6_ENST00000346166.3_Missense_Mutation_p.R268M	p.R268M	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)	5	1555	-	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	268					B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	ENST00000381588.4	37	c.803G>T	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.083104	0.36758	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570	T;T;T	0.09445	2.98;2.98;2.98	5.16	3.27	0.37495	.	0.427965	0.23589	N	0.046569	T	0.11110	0.0271	L	0.59436	1.845	0.80722	D	1	B	0.25667	0.131	B	0.21546	0.035	T	0.06250	-1.0837	10	0.62326	D	0.03	-6.7297	6.8861	0.24202	0.3114:0.5993:0.0:0.0893	.	268	Q9Y252	RNF6_HUMAN	M	268	ENSP00000342121:R268M;ENSP00000371000:R268M;ENSP00000370982:R268M	ENSP00000342121:R268M	R	-	2	0	RNF6	25687216	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.047000	0.41269	1.392000	0.46585	0.557000	0.71058	AGG		0.458	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977		118	223	1	0	1.17312e-48	0.014410	1.45628e-48	118	223				
TNFRSF11B	4982	broad.mit.edu	37	8	119938760	119938760	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:119938760G>C	ENST00000297350.4	-	4	1168	c.790C>G	c.(790-792)Caa>Gaa	p.Q264E		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	264	Death 1.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			ACTATATCTTGGTCTTTGTTT	0.358																																						ENST00000297350.4																			0				breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25						c.(790-792)Caa>Gaa		tumor necrosis factor receptor superfamily, member 11b							211.0	202.0	205.0					8																	119938760		2203	4299	6502	SO:0001583	missense	4982				apoptosis|skeletal system development		cytokine activity|receptor activity	g.chr8:119938760G>C	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.790C>G	8.37:g.119938760G>C	ENSP00000297350:p.Gln264Glu						p.Q264E	NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	STAD - Stomach adenocarcinoma(47;0.00193)		4	1168	-	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		264			Death 1.		B2R9A8|O60236|Q53FX6|Q9UHP4	Missense_Mutation	SNP	ENST00000297350.4	37	c.790C>G	CCDS6326.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.210254	0.58343	.	.	ENSG00000164761	ENST00000297350	D	0.93307	-3.2	5.73	5.73	0.89815	DEATH-like (2);	0.145183	0.47093	D	0.000244	D	0.89904	0.6850	L	0.61218	1.895	0.39016	D	0.959648	P	0.39782	0.688	B	0.27262	0.078	D	0.89910	0.4051	9	.	.	.	-14.0254	14.7188	0.69289	0.0:0.0:0.8553:0.1447	.	264	O00300	TR11B_HUMAN	E	264	ENSP00000297350:Q264E	.	Q	-	1	0	TNFRSF11B	120007941	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	6.310000	0.72830	2.721000	0.93114	0.655000	0.94253	CAA		0.358	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			119	254	0	0	0	0.014410	0	119	254				
SSH2	85464	broad.mit.edu	37	17	28120929	28120929	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:28120929G>A	ENST00000269033.3	-	2	241	c.90C>T	c.(88-90)tgC>tgT	p.C30C	SSH2_ENST00000540801.1_Silent_p.C57C	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	30					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCTGTGACCGGCATTCTTCCT	0.328																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(88-90)tgC>tgT		slingshot protein phosphatase 2							71.0	71.0	71.0					17																	28120929		2203	4300	6503	SO:0001819	synonymous_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:28120929G>A	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.90C>T	17.37:g.28120929G>A						SSH2_ENST00000540801.1_Silent_p.C57C	p.C30C	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			2	241	-			30					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Silent	SNP	ENST00000269033.3	37	c.90C>T	CCDS11253.1																																																																																				0.328	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		4	156	0	0	0	0.009096	0	4	156				
LDHAL6B	92483	broad.mit.edu	37	15	59499808	59499808	+	Silent	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:59499808T>A	ENST00000307144.4	+	1	767	c.669T>A	c.(667-669)atT>atA	p.I223I	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	223					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						GTTTCTTGATTGGACAAAAGC	0.438																																						ENST00000307144.4																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						c.(667-669)atT>atA		lactate dehydrogenase A-like 6B	NADH(DB00157)						77.0	78.0	78.0					15																	59499808		2191	4290	6481	SO:0001819	synonymous_variant	92483				glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	g.chr15:59499808T>A	AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"""lactate dehydrogenase A-like 6"""	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.669T>A	15.37:g.59499808T>A						MYO1E_ENST00000288235.4_Intron	p.I223I	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN			1	767	+			223					Q6DUY4|Q96LI2	Silent	SNP	ENST00000307144.4	37	c.669T>A	CCDS10171.1																																																																																				0.438	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195		56	113	0	0	0	0.014410	0	56	113				
POC1B	282809	broad.mit.edu	37	12	89818965	89818965	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:89818965A>C	ENST00000313546.3	-	11	1433	c.1305T>G	c.(1303-1305)atT>atG	p.I435M	POC1B_ENST00000549035.1_Missense_Mutation_p.I393M|POC1B_ENST00000378528.2_3'UTR|POC1B_ENST00000541909.1_3'UTR|POC1B_ENST00000546740.1_5'UTR|POC1B_ENST00000393179.4_Missense_Mutation_p.I305M	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	435					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						GTTGTTCCATAATATGCTCTA	0.433																																						ENST00000393179.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.(913-915)atT>atG		POC1 centriolar protein B							214.0	169.0	184.0					12																	89818965		2203	4300	6503	SO:0001583	missense	282809							g.chr12:89818965A>C	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.1305T>G	12.37:g.89818965A>C	ENSP00000323302:p.Ile435Met					POC1B_ENST00000378528.2_3'UTR|POC1B_ENST00000313546.3_Missense_Mutation_p.I435M|POC1B_ENST00000541909.1_3'UTR|POC1B_ENST00000546740.1_5'UTR|POC1B_ENST00000549035.1_Missense_Mutation_p.I393M	p.I305M							9	1528	-								G3V1X0	Missense_Mutation	SNP	ENST00000313546.3	37	c.915T>G	CCDS31869.1	.	.	.	.	.	.	.	.	.	.	A	14.07	2.424392	0.43020	.	.	ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000549035	T;T;T	0.70749	-0.51;-0.51;-0.51	5.8	-6.84	0.01687	.	0.119867	0.56097	D	0.000035	T	0.76492	0.3995	L	0.59436	1.845	0.44194	D	0.99701	D	0.76494	0.999	D	0.80764	0.994	T	0.79541	-0.1761	10	0.52906	T	0.07	.	16.0563	0.80809	0.3656:0.0:0.6344:0.0	.	435	Q8TC44	POC1B_HUMAN	M	305;435;393	ENSP00000376877:I305M;ENSP00000323302:I435M;ENSP00000447916:I393M	ENSP00000323302:I435M	I	-	3	3	POC1B	88343096	0.010000	0.17322	0.691000	0.30163	0.155000	0.21991	-1.800000	0.01744	-1.208000	0.02634	-0.371000	0.07208	ATT		0.433	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240		80	121	0	0	0	0.014410	0	80	121				
DIP2C	22982	broad.mit.edu	37	10	355983	355983	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:355983A>T	ENST00000280886.6	-	32	4061	c.3974T>A	c.(3973-3975)cTg>cAg	p.L1325Q		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1325						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GTCGTGTCTCAGGGCTCTCAT	0.473																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(3973-3975)cTg>cAg		DIP2 disco-interacting protein 2 homolog C (Drosophila)							172.0	150.0	157.0					10																	355983		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:355983A>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3974T>A	10.37:g.355983A>T	ENSP00000280886:p.Leu1325Gln						p.L1325Q	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	32	4061	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	1325					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.3974T>A	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.920316	0.73098	.	.	ENSG00000151240	ENST00000280886;ENST00000535541	T	0.44083	0.93	5.19	5.19	0.71726	AMP-dependent synthetase/ligase (1);	0.000000	0.64402	D	0.000002	T	0.65749	0.2721	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70901	-0.4746	10	0.87932	D	0	-19.515	15.0011	0.71473	1.0:0.0:0.0:0.0	.	1325	Q9Y2E4	DIP2C_HUMAN	Q	1325;250	ENSP00000280886:L1325Q	ENSP00000280886:L1325Q	L	-	2	0	DIP2C	345983	1.000000	0.71417	0.993000	0.49108	0.679000	0.39708	8.241000	0.89816	2.083000	0.62718	0.482000	0.46254	CTG		0.473	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		37	96	0	0	0	0.006230	0	37	96				
ZNF789	285989	broad.mit.edu	37	7	99084134	99084134	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:99084134C>A	ENST00000331410.5	+	5	571	c.301C>A	c.(301-303)Cca>Aca	p.P101T	ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAAGCTAACTCCAAAACAGAA	0.343																																						ENST00000331410.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11						c.(301-303)Cca>Aca		zinc finger protein 789							40.0	43.0	42.0					7																	99084134		2203	4300	6503	SO:0001583	missense	285989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:99084134C>A	AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.301C>A	7.37:g.99084134C>A	ENSP00000331927:p.Pro101Thr					ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	p.P101T	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN			5	571	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		101					A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	ENST00000331410.5	37	c.301C>A	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	C	0.726	-0.781622	0.02929	.	.	ENSG00000198556	ENST00000331410	T	0.05081	3.5	2.8	-1.69	0.08186	.	.	.	.	.	T	0.03959	0.0111	L	0.33485	1.01	0.09310	N	1	B	0.30068	0.267	B	0.25291	0.059	T	0.42361	-0.9456	9	0.29301	T	0.29	.	3.4587	0.07524	0.0:0.3621:0.2053:0.4326	.	101	Q5FWF6	ZN789_HUMAN	T	101	ENSP00000331927:P101T	ENSP00000331927:P101T	P	+	1	0	ZNF789	98922070	0.001000	0.12720	0.004000	0.12327	0.041000	0.13682	0.202000	0.17295	-0.414000	0.07495	-0.827000	0.03088	CCA		0.343	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		40	51	1	0	4.92203e-23	0.006230	5.85762e-23	40	51				
SH2D6	284948	broad.mit.edu	37	2	85662808	85662808	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:85662808G>A	ENST00000340326.2	+	3	433	c.272G>A	c.(271-273)cGc>cAc	p.R91H	SH2D6_ENST00000389938.2_Missense_Mutation_p.R59H|Y_RNA_ENST00000384478.1_RNA|SH2D6_ENST00000481426.2_3'UTR	NM_198482.1	NP_940884.1	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	91	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									central_nervous_system(1)|lung(2)	3						TATACCGTGCGCCCCAGCTCA	0.652																																						ENST00000389938.2																			0				central_nervous_system(1)|lung(2)	3						c.(175-177)cGc>cAc		SH2 domain containing 6							39.0	43.0	42.0					2																	85662808		2203	4300	6503	SO:0001583	missense	284948							g.chr2:85662808G>A	AF450483	CCDS1976.1	2p11.2	2013-02-14			ENSG00000152292	ENSG00000152292		"""SH2 domain containing"""	30439	protein-coding gene	gene with protein product						12477932	Standard	NM_198482		Approved	FLJ35993	uc002spq.3	Q7Z4S9	OTTHUMG00000130176	ENST00000340326.2:c.272G>A	2.37:g.85662808G>A	ENSP00000341867:p.Arg91His					SH2D6_ENST00000340326.2_Missense_Mutation_p.R91H|SH2D6_ENST00000481426.2_3'UTR	p.R59H			Q7Z4S9	SH2D6_HUMAN			19	1490	+			91					A6ND14|Q6R306	Missense_Mutation	SNP	ENST00000340326.2	37	c.176G>A	CCDS1976.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686379	0.88639	.	.	ENSG00000152292	ENST00000389938;ENST00000340326	D;D	0.99292	-5.7;-5.7	4.87	4.87	0.63330	SH2 motif (4);	0.000000	0.64402	D	0.000006	D	0.99560	0.9842	H	0.95437	3.67	0.50467	D	0.999874	D	0.89917	1.0	D	0.91635	0.999	D	0.97981	1.0349	10	0.87932	D	0	-34.5067	13.5201	0.61563	0.0:0.0:1.0:0.0	.	91	Q7Z4S9	SH2D6_HUMAN	H	59;91	ENSP00000374588:R59H;ENSP00000341867:R91H	ENSP00000341867:R91H	R	+	2	0	SH2D6	85516319	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	6.340000	0.72973	2.256000	0.74724	0.462000	0.41574	CGC		0.652	SH2D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252493.2	NM_198482		19	38	0	0	0	0.007413	0	19	38				
MCPH1	79648	broad.mit.edu	37	8	6266849	6266849	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:6266849T>A	ENST00000344683.5	+	2	148	c.72T>A	c.(70-72)taT>taA	p.Y24*	RP11-115C21.2_ENST00000500118.2_RNA|RP11-115C21.2_ENST00000606853.1_RNA|MCPH1_ENST00000522905.1_Nonsense_Mutation_p.Y24*|RP11-115C21.2_ENST00000523225.1_RNA|MCPH1_ENST00000519480.1_Nonsense_Mutation_p.Y24*	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	24	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CAGAAAATTATTCAAAGACAT	0.363																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6						c.(70-72)taT>taA		microcephalin 1							159.0	149.0	152.0					8																	6266849		1878	4110	5988	SO:0001587	stop_gained	79648					microtubule organizing center		g.chr8:6266849T>A	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.72T>A	8.37:g.6266849T>A	ENSP00000342924:p.Tyr24*					MCPH1_ENST00000522905.1_Nonsense_Mutation_p.Y24*|MCPH1_ENST00000519480.1_Nonsense_Mutation_p.Y24*	p.Y24*	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	2	148	+		Hepatocellular(245;0.0663)	24			BRCT 1.		B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Nonsense_Mutation	SNP	ENST00000344683.5	37	c.72T>A	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	T	36	5.690341	0.96793	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	.	.	.	5.13	1.41	0.22369	.	0.086750	0.48286	D	0.000188	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.1867	7.6003	0.28073	0.0:0.2679:0.0:0.7321	.	.	.	.	X	24	.	ENSP00000342924:Y24X	Y	+	3	2	MCPH1	6254257	0.977000	0.34250	0.999000	0.59377	0.902000	0.53008	0.010000	0.13242	-0.018000	0.14079	0.482000	0.46254	TAT		0.363	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		58	125	0	0	0	0.014410	0	58	125				
LARS2	23395	broad.mit.edu	37	3	45537772	45537772	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:45537772A>G	ENST00000415258.1	+	13	1670	c.1529A>G	c.(1528-1530)aAg>aGg	p.K510R	LARS2_ENST00000265537.3_Missense_Mutation_p.K510R|LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000414984.1_Missense_Mutation_p.K467R			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	510					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CTTAGGTGCAAGGGAGCAGCC	0.363																																						ENST00000415258.1																			0				endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1528-1530)aAg>aGg		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)						159.0	154.0	156.0					3																	45537772		2203	4300	6503	SO:0001583	missense	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45537772A>G	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.1529A>G	3.37:g.45537772A>G	ENSP00000408576:p.Lys510Arg					LARS2_ENST00000265537.3_Missense_Mutation_p.K510R|LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000414984.1_Missense_Mutation_p.K467R	p.K510R			Q15031	SYLM_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	13	1670	+			510						Missense_Mutation	SNP	ENST00000415258.1	37	c.1529A>G	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.178018	0.78564	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	T;T;T	0.76448	-1.02;-1.02;-1.02	5.49	5.49	0.81192	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.157299	0.56097	D	0.000036	T	0.80037	0.4550	M	0.72576	2.205	0.41153	D	0.98604	P;B	0.37061	0.58;0.437	B;B	0.43445	0.42;0.254	T	0.82440	-0.0456	10	0.87932	D	0	-18.749	11.5725	0.50843	0.8509:0.1491:0.0:0.0	.	467;510	E9PHM2;Q15031	.;SYLM_HUMAN	R	510;510;467	ENSP00000265537:K510R;ENSP00000408576:K510R;ENSP00000412893:K467R	ENSP00000265537:K510R	K	+	2	0	LARS2	45512776	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.256000	0.51492	2.085000	0.62840	0.528000	0.53228	AAG		0.363	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		103	170	0	0	0	0.014410	0	103	170				
ERICH6	131831	broad.mit.edu	37	3	150404112	150404112	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:150404112G>A	ENST00000295910.6	-	4	635	c.583C>T	c.(583-585)Cct>Tct	p.P195S	FAM194A_ENST00000491361.1_Missense_Mutation_p.P49S	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGACATTCAGGTTCAGCTTTC	0.388																																						ENST00000295910.6																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(583-585)Cct>Tct		family with sequence similarity 194, member A							143.0	140.0	141.0					3																	150404112		2203	4300	6503	SO:0001583	missense	131831							g.chr3:150404112G>A																												ENST00000295910.6:c.583C>T	3.37:g.150404112G>A	ENSP00000295910:p.Pro195Ser					FAM194A_ENST00000491361.1_Missense_Mutation_p.P49S	p.P195S	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN			4	635	-			195						Missense_Mutation	SNP	ENST00000295910.6	37	c.583C>T	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	G	7.131	0.579930	0.13686	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.14144	2.71;2.53	3.41	0.518	0.17030	.	0.828030	0.10150	N	0.709670	T	0.08758	0.0217	L	0.40543	1.245	0.09310	N	1	B	0.22909	0.077	B	0.23275	0.045	T	0.43893	-0.9363	10	0.09084	T	0.74	-0.5384	3.7466	0.08551	0.2368:0.204:0.5591:0.0	.	195	Q7L0X2	F194A_HUMAN	S	195;49;153	ENSP00000295910:P195S;ENSP00000419366:P49S	ENSP00000295910:P195S	P	-	1	0	FAM194A	151886802	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.024000	0.12435	0.090000	0.17273	0.491000	0.48974	CCT		0.388	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			37	157	0	0	0	0.011902	0	37	157				
TENM4	26011	broad.mit.edu	37	11	78369474	78369474	+	Missense_Mutation	SNP	C	C	T	rs184305763		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:78369474C>T	ENST00000278550.7	-	34	8401	c.7939G>A	c.(7939-7941)Gtc>Atc	p.V2647I		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2647					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.V2647I(2)									GACACAGTGACGTTGACCCCA	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21367	0.0		0.0	False		,,,				2504	0.0					ENST00000278550.7																			2	Substitution - Missense(2)	p.V2647I(2)	breast(2)								c.(7939-7941)Gtc>Atc		teneurin transmembrane protein 4							73.0	76.0	75.0					11																	78369474		2112	4241	6353	SO:0001583	missense	26011							g.chr11:78369474C>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7939G>A	11.37:g.78369474C>T	ENSP00000278550:p.Val2647Ile						p.V2647I	NM_001098816.2	NP_001092286.2					34	8401	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.7939G>A	CCDS44688.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	21.8	4.208994	0.79240	.	.	ENSG00000149256	ENST00000278550	D	0.90732	-2.72	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.93822	0.8024	L	0.51914	1.62	0.58432	D	0.999999	D	0.76494	0.999	D	0.71184	0.972	D	0.92205	0.5771	9	.	.	.	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	2647	Q6N022	TEN4_HUMAN	I	2647	ENSP00000278550:V2647I	.	V	-	1	0	ODZ4	78047122	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	5.891000	0.69782	2.941000	0.99782	0.655000	0.94253	GTC		0.562	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			6	84	0	0	0	0.003080	0	6	84				
C8A	731	broad.mit.edu	37	1	57351601	57351601	+	Splice_Site	SNP	A	A	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:57351601A>C	ENST00000361249.3	+	7	953	c.857A>C	c.(856-858)aAa>aCa	p.K286T		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	286	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGCTGGCAGAAATTCATTTTC	0.393																																						ENST00000361249.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.e7-1		complement component 8, alpha polypeptide							54.0	54.0	54.0					1																	57351601		2203	4300	6503	SO:0001630	splice_region_variant	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57351601A>C	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.856-1A>C	1.37:g.57351601A>C							p.K286_splice	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			7	953	+			286			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Splice_Site	SNP	ENST00000361249.3	37	c.855_splice	CCDS606.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.403810	0.25291	.	.	ENSG00000157131	ENST00000361249	D	0.85411	-1.98	5.95	2.26	0.28386	Membrane attack complex component/perforin (MACPF) domain (2);	0.487586	0.26887	N	0.021993	D	0.83769	0.5326	M	0.77103	2.36	0.22050	N	0.999399	P	0.39424	0.673	B	0.39706	0.307	T	0.74028	-0.3796	10	0.39692	T	0.17	-9.6949	10.4056	0.44254	0.8179:0.0:0.1821:0.0	.	286	P07357	CO8A_HUMAN	T	286	ENSP00000354458:K286T	ENSP00000354458:K286T	K	+	2	0	C8A	57124189	0.741000	0.28217	0.992000	0.48379	0.095000	0.18619	1.988000	0.40697	0.483000	0.27608	0.460000	0.39030	AAA		0.393	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562	Missense_Mutation	6	62	0	0	0	0.001984	0	6	62				
TRPC4	7223	broad.mit.edu	37	13	38357441	38357441	+	Silent	SNP	A	A	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:38357441A>C	ENST00000379705.3	-	2	887	c.30T>G	c.(28-30)gtT>gtG	p.V10V	TRPC4_ENST00000355779.2_Silent_p.V10V|TRPC4_ENST00000447043.1_Silent_p.V10V|TRPC4_ENST00000426868.2_Silent_p.V10V|TRPC4_ENST00000379681.3_Silent_p.V10V|TRPC4_ENST00000358477.2_Silent_p.V10V|TRPC4_ENST00000379679.1_Silent_p.V10V|TRPC4_ENST00000379673.2_Silent_p.V10V|TRPC4_ENST00000338947.5_Silent_p.V10V			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	10					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGGGAGCATTAACATTTCTTT	0.388																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(28-30)gtT>gtG		transient receptor potential cation channel, subfamily C, member 4							93.0	89.0	90.0					13																	38357441		2203	4300	6503	SO:0001819	synonymous_variant	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38357441A>C	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.30T>G	13.37:g.38357441A>C						TRPC4_ENST00000379679.1_Silent_p.V10V|TRPC4_ENST00000426868.2_Silent_p.V10V|TRPC4_ENST00000358477.2_Silent_p.V10V|TRPC4_ENST00000447043.1_Silent_p.V10V|TRPC4_ENST00000355779.2_Silent_p.V10V|TRPC4_ENST00000379673.2_Silent_p.V10V|TRPC4_ENST00000379681.3_Silent_p.V10V|TRPC4_ENST00000338947.5_Silent_p.V10V	p.V10V			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	2	887	-			10					B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	c.30T>G	CCDS9365.1																																																																																				0.388	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		95	162	0	0	0	0.014410	0	95	162				
MCM2	4171	broad.mit.edu	37	3	127338092	127338092	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:127338092A>T	ENST00000265056.7	+	13	2480	c.2236A>T	c.(2236-2238)Atg>Ttg	p.M746L	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	746					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						GGTGGCCAAGATGTACAGTGA	0.567																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.(2236-2238)Atg>Ttg		minichromosome maintenance complex component 2							117.0	94.0	102.0					3																	127338092		2203	4300	6503	SO:0001583	missense	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127338092A>T	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.2236A>T	3.37:g.127338092A>T	ENSP00000265056:p.Met746Leu					MCM2_ENST00000468414.1_3'UTR	p.M746L	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN			13	2480	+			746					Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	c.2236A>T	CCDS3043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.773|9.773	1.173298|1.173298	0.21704|0.21704	.|.	.|.	ENSG00000073111|ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142|ENST00000491422	T|.	0.09255|.	3.0|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.037864|.	0.85682|.	D|.	0.000000|.	T|T	0.35189|0.35189	0.0923|0.0923	N|N	0.03891|0.03891	-0.335|-0.335	0.80722|0.80722	D|D	1|1	B;B;B|.	0.14438|.	0.01;0.0;0.0|.	B;B;B|.	0.13407|.	0.009;0.006;0.006|.	T|T	0.33523|0.33523	-0.9865|-0.9865	10|5	0.02654|.	T|.	1|.	-50.0606|-50.0606	15.7928|15.7928	0.78380|0.78380	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	796;616;746|.	F5H1E9;B4DSV5;P49736|.	.;.;MCM2_HUMAN|.	L|S	746;650;796|677	ENSP00000265056:M746L|.	ENSP00000265056:M746L|.	M|R	+|+	1|3	0|2	MCM2|MCM2	128820782|128820782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.853000|8.853000	0.92222|0.92222	2.132000|2.132000	0.65825|0.65825	0.482000|0.482000	0.46254|0.46254	ATG|AGA		0.567	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			50	103	0	0	0	0.014410	0	50	103				
ERCC5	2073	broad.mit.edu	37	13	103513996	103513996	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:103513996G>T	ENST00000355739.4	+	7	2235	c.812G>T	c.(811-813)gGc>gTc	p.G271V	BIVM-ERCC5_ENST00000602836.1_Silent_p.G696G	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	271					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GATGAAGGGGGCTTTCTGAAG	0.388			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000355739.4			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""Mis, N, F"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51						c.(811-813)gGc>gTc	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 5							123.0	126.0	125.0					13																	103513996		2203	4300	6503	SO:0001583	missense	2073	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV				g.chr13:103513996G>T	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.812G>T	13.37:g.103513996G>T	ENSP00000347978:p.Gly271Val					BIVM-ERCC5_ENST00000602836.1_Silent_p.G696G	p.G271V	NM_000123.3	NP_000114.2					7	2235	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)							A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.812G>T	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785173	0.90282	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955	T	0.20332	2.08	5.59	5.59	0.84812	.	0.170125	0.52532	D	0.000069	T	0.48519	0.1504	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.91635	0.944;0.999;0.999	T	0.33548	-0.9864	10	0.42905	T	0.14	-17.8275	19.6012	0.95563	0.0:0.0:1.0:0.0	.	271;271;696	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	V	696;271;103	ENSP00000347978:G271V	ENSP00000347978:G271V	G	+	2	0	ERCC5	102311997	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.234000	0.65343	2.625000	0.88918	0.557000	0.71058	GGC		0.388	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			5	181	1	0	0.000602214	0.000602	0.000623877	5	181				
SLC9A8	23315	broad.mit.edu	37	20	48479596	48479596	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:48479596T>G	ENST00000361573.2	+	9	886	c.844T>G	c.(844-846)Tct>Gct	p.S282A	SLC9A8_ENST00000541138.1_Intron|SLC9A8_ENST00000417961.1_Missense_Mutation_p.S298A|SLC9A8_ENST00000539601.1_Missense_Mutation_p.S63A			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	282					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TGGCTTAATTTCTGCATTAAT	0.418																																						ENST00000417961.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(892-894)Tct>Gct		solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8							76.0	73.0	74.0					20																	48479596		2203	4300	6503	SO:0001583	missense	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48479596T>G	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.844T>G	20.37:g.48479596T>G	ENSP00000354966:p.Ser282Ala					SLC9A8_ENST00000361573.2_Missense_Mutation_p.S282A|SLC9A8_ENST00000541138.1_Intron|SLC9A8_ENST00000539601.1_Missense_Mutation_p.S63A	p.S298A	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		9	1102	+			282					B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	ENST00000361573.2	37	c.892T>G	CCDS13421.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.378504	0.61735	.	.	ENSG00000197818	ENST00000417961;ENST00000361573;ENST00000539601	T;T;T	0.14516	2.5;2.5;2.5	5.39	5.39	0.77823	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.14874	0.0359	L	0.39326	1.205	0.80722	D	1	B	0.19073	0.033	B	0.27262	0.078	T	0.04976	-1.0914	10	0.30854	T	0.27	.	15.4123	0.74937	0.0:0.0:0.0:1.0	.	282	Q9Y2E8	SL9A8_HUMAN	A	298;282;63	ENSP00000416418:S298A;ENSP00000354966:S282A;ENSP00000441716:S63A	ENSP00000354966:S282A	S	+	1	0	SLC9A8	47913003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.538000	0.82048	2.023000	0.59567	0.460000	0.39030	TCT		0.418	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		52	150	0	0	0	0.014410	0	52	150				
PKHD1	5314	broad.mit.edu	37	6	51637542	51637542	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:51637542G>A	ENST00000371117.3	-	55	8875	c.8600C>T	c.(8599-8601)tCc>tTc	p.S2867F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S2867F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2867	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGTGTCCAGGAGTTCTTAGG	0.398																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(8599-8601)tCc>tTc		polycystic kidney and hepatic disease 1 (autosomal recessive)							134.0	135.0	135.0					6																	51637542		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51637542G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8600C>T	6.37:g.51637542G>A	ENSP00000360158:p.Ser2867Phe					PKHD1_ENST00000340994.4_Missense_Mutation_p.S2867F	p.S2867F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			55	8875	-	Lung NSC(77;0.0605)		2867			G8 2.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.8600C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218140	0.58560	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.90900	-2.75;-2.75	5.79	4.92	0.64577	G8 domain (2);	0.235877	0.37857	N	0.001907	D	0.89972	0.6870	M	0.63428	1.95	0.33873	D	0.63519	D;D;D	0.71674	0.998;0.996;0.994	D;P;D	0.70487	0.969;0.759;0.925	D	0.87225	0.2256	10	0.12103	T	0.63	.	12.1178	0.53875	0.0791:0.0:0.9209:0.0	.	2867;2867;2867	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	F	2867	ENSP00000360158:S2867F;ENSP00000341097:S2867F	ENSP00000341097:S2867F	S	-	2	0	PKHD1	51745501	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	4.463000	0.60128	1.445000	0.47624	0.591000	0.81541	TCC		0.398	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		88	135	0	0	0	0.014410	0	88	135				
UNC13C	440279	broad.mit.edu	37	15	54307905	54307905	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:54307905A>C	ENST00000260323.11	+	1	2805	c.2805A>C	c.(2803-2805)ttA>ttC	p.L935F	UNC13C_ENST00000537900.1_Missense_Mutation_p.L935F|UNC13C_ENST00000545554.1_Missense_Mutation_p.L935F	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	935					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAGAGGGGTTAGAACCCTTAA	0.403																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(2803-2805)ttA>ttC		unc-13 homolog C (C. elegans)							79.0	77.0	78.0					15																	54307905		1856	4105	5961	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54307905A>C	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2805A>C	15.37:g.54307905A>C	ENSP00000260323:p.Leu935Phe					UNC13C_ENST00000260323.11_Missense_Mutation_p.L935F|UNC13C_ENST00000537900.1_Missense_Mutation_p.L935F	p.L935F			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	2805	+			935					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.2805A>C	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	A	9.602	1.128912	0.21041	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.81078	-1.45;-1.38;-1.45	5.69	3.81	0.43845	.	.	.	.	.	T	0.63651	0.2529	N	0.24115	0.695	0.31705	N	0.640274	B	0.32968	0.392	B	0.30029	0.11	T	0.59674	-0.7410	9	0.12103	T	0.63	.	8.287	0.31935	0.2432:0.0:0.7568:0.0	.	935	Q8NB66	UN13C_HUMAN	F	935	ENSP00000260323:L935F;ENSP00000438156:L935F;ENSP00000442569:L935F	ENSP00000260323:L935F	L	+	3	2	UNC13C	52095197	0.980000	0.34600	0.966000	0.40874	0.773000	0.43773	1.070000	0.30653	0.742000	0.32697	-0.248000	0.11899	TTA		0.403	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		45	56	0	0	0	0.010771	0	45	56				
ZNF826P	664701	broad.mit.edu	37	19	20607672	20607672	+	RNA	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:20607672G>T	ENST00000502675.1	-	0	90					NR_036455.1		Q6ZT77	ZN826_HUMAN	zinc finger protein 826, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(4)	4						CAGAGGCTGGGCCTCTATGAG	0.557																																						ENST00000502675.1																			0				large_intestine(4)	4																																														664701							g.chr19:20607672G>T	BC016785		19p12	2010-08-03	2010-08-03	2010-08-03	ENSG00000231205	ENSG00000231205			33875	pseudogene	pseudogene			"""zinc finger protein 826"""	ZNF826			Standard	NR_036455		Approved	FLJ44894	uc021urn.2	Q6ZT77	OTTHUMG00000162773		19.37:g.20607672G>T								NR_036455.1						0	90	-									RNA	SNP	ENST00000502675.1	37																																																																																						0.557	ZNF826P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000370365.1	NM_001039884		7	12	1	0	3.09899e-07	0.004482	3.43272e-07	7	12				
AAR2	25980	broad.mit.edu	37	20	34832710	34832710	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:34832710G>T	ENST00000373932.3	+	3	1195	c.849G>T	c.(847-849)cgG>cgT	p.R283R	AAR2_ENST00000320849.4_Silent_p.R283R|AAR2_ENST00000397286.3_Silent_p.R283R	NM_015511.3	NP_056326.2	Q9Y312	AAR2_HUMAN	AAR2 splicing factor homolog (S. cerevisiae)	283																	TCCTGTGCCGGTCAGAAGCAG	0.527																																						ENST00000373932.3																			0											c.(847-849)cgG>cgT		AAR2 splicing factor homolog (S. cerevisiae)							213.0	172.0	186.0					20																	34832710		2203	4300	6503	SO:0001819	synonymous_variant	25980							g.chr20:34832710G>T		CCDS13273.1	20q11.23	2012-07-20	2012-07-20	2012-07-20	ENSG00000131043	ENSG00000131043			15886	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 4"""	C20orf4			Standard	NM_015511		Approved	bA234K24.2	uc002xfc.3	Q9Y312	OTTHUMG00000032380	ENST00000373932.3:c.849G>T	20.37:g.34832710G>T						AAR2_ENST00000320849.4_Silent_p.R283R|AAR2_ENST00000397286.3_Silent_p.R283R	p.R283R	NM_015511.3	NP_056326.2					3	1195	+								E1P5S7|Q9H4F9|Q9P1P3|Q9UFK9	Silent	SNP	ENST00000373932.3	37	c.849G>T	CCDS13273.1																																																																																				0.527	AAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079001.2	NM_015511		9	127	1	0	0.00316338	0.003163	0.00325376	9	127				
C1QTNF7	114905	broad.mit.edu	37	4	15437360	15437360	+	5'UTR	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:15437360A>G	ENST00000444304.2	+	0	319				C1QTNF7_ENST00000295297.4_Splice_Site_p.E5G|C1QTNF7_ENST00000429690.1_5'UTR			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7						protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						TCTCTTCCAGAGCCAAAGATG	0.448																																						ENST00000295297.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						c.e2-1		C1q and tumor necrosis factor related protein 7							93.0	88.0	90.0					4																	15437360		2203	4300	6503	SO:0001623	5_prime_UTR_variant	114905					collagen		g.chr4:15437360A>G	AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.-8A>G	4.37:g.15437360A>G						C1QTNF7_ENST00000444304.2_5'UTR|C1QTNF7_ENST00000429690.1_5'UTR	p.E5_splice	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN			2	273	+			0					B2RBT3|J3KPW3	Splice_Site	SNP	ENST00000444304.2	37	c.13_splice	CCDS3414.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.829547	0.71258	.	.	ENSG00000163145	ENST00000397700;ENST00000295297	D;D	0.91464	-2.85;-2.52	5.54	3.05	0.35203	.	.	.	.	.	D	0.87720	0.6248	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.81116	-0.1079	5	.	.	.	.	3.4297	0.07424	0.5381:0.2659:0.0686:0.1274	.	.	.	.	G	5	ENSP00000380812:E5G;ENSP00000295297:E5G	.	E	+	2	0	C1QTNF7	15046458	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.549000	0.45803	0.449000	0.26747	0.533000	0.62120	GAG		0.448	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250891.2			38	67	0	0	0	0.006230	0	38	67				
UTP11L	51118	broad.mit.edu	37	1	38484984	38484984	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:38484984T>A	ENST00000373014.4	+	6	557	c.496T>A	c.(496-498)Ttt>Att	p.F166I	UTP11L_ENST00000537711.1_Intron|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)	166					nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleolus (GO:0005730)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGACAGAGTCTTTAATAGGCC	0.423																																						ENST00000373014.4																			0				NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(496-498)Ttt>Att		UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)							107.0	112.0	110.0					1																	38484984		2203	4300	6503	SO:0001583	missense	51118				induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding	g.chr1:38484984T>A	AF151852	CCDS429.1	1p34.3	2014-03-06	2014-03-06		ENSG00000183520	ENSG00000183520			24329	protein-coding gene	gene with protein product		609440				11860508, 10810093	Standard	NM_016037		Approved	CGI-94	uc001ccn.4	Q9Y3A2	OTTHUMG00000004435	ENST00000373014.4:c.496T>A	1.37:g.38484984T>A	ENSP00000362105:p.Phe166Ile					UTP11L_ENST00000488453.1_3'UTR|UTP11L_ENST00000537711.1_Intron	p.F166I	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN			6	557	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	166					A8K785|B4DJC6|D3DPT7|Q5VT93|Q9BS98|Q9NS31	Missense_Mutation	SNP	ENST00000373014.4	37	c.496T>A	CCDS429.1	.	.	.	.	.	.	.	.	.	.	T	18.31	3.596613	0.66332	.	.	ENSG00000183520	ENST00000373014	.	.	.	5.8	5.8	0.92144	.	0.155260	0.64402	D	0.000013	T	0.57814	0.2079	L	0.49455	1.56	0.80722	D	1	B	0.27316	0.175	B	0.28465	0.09	T	0.53767	-0.8392	9	0.22706	T	0.39	-19.0294	16.1435	0.81544	0.0:0.0:0.0:1.0	.	166	Q9Y3A2	UTP11_HUMAN	I	166	.	ENSP00000362105:F166I	F	+	1	0	UTP11L	38257571	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.887000	0.75616	2.212000	0.71576	0.528000	0.53228	TTT		0.423	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012962.1	NM_016037		12	153	0	0	0	0.010729	0	12	153				
CR1	1378	broad.mit.edu	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	C	T	rs55749440		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:207787753C>T	ENST00000367049.4	+	40	6580	c.6580C>T	c.(6580-6582)Cga>Tga	p.R2194*	CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1744					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTCCGATTAAAAGG	0.423																																						ENST00000367049.4																			19	Substitution - Nonsense(19)	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)	lung(6)|endometrium(6)|prostate(3)|kidney(2)|central_nervous_system(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(6580-6582)Cga>Tga		complement component (3b/4b) receptor 1 (Knops blood group)							103.0	94.0	97.0					1																	207787753		1868	4107	5975	SO:0001587	stop_gained	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207787753C>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6580C>T	1.37:g.207787753C>T	ENSP00000356016:p.Arg2194*					CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*	p.R2194*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			40	6580	+			1744					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Nonsense_Mutation	SNP	ENST00000367049.4	37	c.6580C>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	44	11.182593	0.99528	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.	.	.	4.29	2.39	0.29439	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5152	0.27596	0.0:0.7891:0.0:0.2109	rs55749440	.	.	.	X	1744;1744;1744;1744;2194	.	ENSP00000356016:R2194X	R	+	1	2	CR1	205854376	0.129000	0.22400	0.370000	0.25965	0.352000	0.29268	0.213000	0.17521	0.518000	0.28383	0.436000	0.28706	CGA		0.423	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		3	69	0	0	0	0.004672	0	3	69				
ZSCAN9	7746	broad.mit.edu	37	6	28200339	28200339	+	Splice_Site	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:28200339G>A	ENST00000252207.5	+	4	716		c.e4-1		ZSCAN9_ENST00000425468.2_Splice_Site|ZSCAN9_ENST00000531979.1_Splice_Site	NM_006299.4	NP_006290.1	O15535	ZSC9_HUMAN	zinc finger and SCAN domain containing 9						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CTTTGTTTCAGATGAAGTAAC	0.408																																						ENST00000425468.2																			0											c.e5-1		zinc finger and SCAN domain containing 9							63.0	60.0	61.0					6																	28200339		2203	4300	6503	SO:0001630	splice_region_variant	7746							g.chr6:28200339G>A	U62392	CCDS4646.1, CCDS56407.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000137185	ENSG00000137185		"""-"", ""Zinc fingers, C2H2-type"""	12984	protein-coding gene	gene with protein product		602246	"""zinc finger protein 193"""	ZNF193			Standard	NM_001199479		Approved	PRD51	uc003nkq.2	O15535	OTTHUMG00000014515	ENST00000252207.5:c.569-1G>A	6.37:g.28200339G>A						ZSCAN9_ENST00000252207.5_Splice_Site|ZSCAN9_ENST00000531979.1_Splice_Site		NM_001199479.1	NP_001186408.1					5	886	+								B4E1W6|E7EVQ2|Q2TTR1	Splice_Site	SNP	ENST00000252207.5	37		CCDS4646.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990901	0.74703	.	.	ENSG00000137185	ENST00000425468;ENST00000252207;ENST00000531979;ENST00000527844	.	.	.	3.65	2.74	0.32292	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0901	0.48110	0.0:0.1902:0.8098:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF193	28308318	0.057000	0.20700	0.883000	0.34634	0.905000	0.53344	0.909000	0.28558	1.068000	0.40764	0.655000	0.94253	.		0.408	ZSCAN9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040183.2	NM_006299	Intron	44	74	0	0	0	0.014410	0	44	74				
KRTAP10-7	386675	broad.mit.edu	37	21	46021150	46021150	+	Missense_Mutation	SNP	C	C	T	rs368247742	byFrequency	TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr21:46021150C>T	ENST00000380102.2	+	1	654	c.629C>T	c.(628-630)aCg>aTg	p.T210M	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	210	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						AGCTCCTGCACGCCCTCGTGC	0.667													C|||	2	0.000399361	0.0	0.0014	5008	,	,		22511	0.0		0.0	False		,,,				2504	0.001					ENST00000380102.2																			0				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(628-630)aCg>aTg		keratin associated protein 10-7		C	MET/THR,	0,4402		0,0,2201	49.0	49.0	49.0		629,	0.9	0.0	21		49	1,8557		0,1,4278	no	missense,intron	TSPEAR,KRTAP10-7	NM_198689.2,NM_144991.2	81,	0,1,6479	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging,	210/376,	46021150	1,12959	2201	4279	6480	SO:0001583	missense	386675					keratin filament		g.chr21:46021150C>T	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.629C>T	21.37:g.46021150C>T	ENSP00000369445:p.Thr210Met					TSPEAR_ENST00000323084.4_Intron	p.T210M	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN			1	654	+			210			30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	ENST00000380102.2	37	c.629C>T		.	.	.	.	.	.	.	.	.	.	N	2.156	-0.393436	0.04899	0.0	1.17E-4	ENSG00000205441	ENST00000380102	T	0.01406	4.93	3.1	0.846	0.18955	.	.	.	.	.	T	0.03871	0.0109	M	0.80422	2.495	0.09310	N	1	D	0.59357	0.985	P	0.49528	0.614	T	0.34054	-0.9844	9	0.48119	T	0.1	.	7.8101	0.29226	0.388:0.612:0.0:0.0	.	205	P60409-2	.	M	210	ENSP00000369445:T210M	ENSP00000369445:T210M	T	+	2	0	KRTAP10-7	44845578	0.000000	0.05858	0.006000	0.13384	0.017000	0.09413	-0.265000	0.08644	0.373000	0.24621	0.305000	0.20034	ACG		0.667	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		5	128	0	0	0	0.003080	0	5	128				
KRT28	162605	broad.mit.edu	37	17	38955746	38955746	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:38955746C>T	ENST00000306658.7	-	1	465	c.400G>A	c.(400-402)Gat>Aat	p.D134N		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TAGTCATGATCAAGTCCACGG	0.388																																					Melanoma(19;789 869 15380 26882 39836)	ENST00000306658.7																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(400-402)Gat>Aat		keratin 28							146.0	143.0	144.0					17																	38955746		2203	4300	6503	SO:0001583	missense	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38955746C>T	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.400G>A	17.37:g.38955746C>T	ENSP00000305263:p.Asp134Asn						p.D134N	NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN			1	465	-		Breast(137;0.000301)	134			Linker 1.|Rod.			Missense_Mutation	SNP	ENST00000306658.7	37	c.400G>A	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777088	0.49786	.	.	ENSG00000173908	ENST00000306658	D	0.83992	-1.79	5.19	5.19	0.71726	Filament (1);	0.094778	0.45606	D	0.000349	T	0.74359	0.3706	L	0.34521	1.04	0.38658	D	0.952009	B	0.17038	0.02	B	0.21151	0.033	T	0.72272	-0.4342	10	0.51188	T	0.08	.	10.0974	0.42484	0.0:0.9077:0.0:0.0923	.	134	Q7Z3Y7	K1C28_HUMAN	N	134	ENSP00000305263:D134N	ENSP00000305263:D134N	D	-	1	0	KRT28	36209272	0.002000	0.14202	0.993000	0.49108	0.856000	0.48823	0.956000	0.29202	2.596000	0.87737	0.655000	0.94253	GAT		0.388	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		49	445	0	0	0	0.014410	0	49	445				
AARS	16	broad.mit.edu	37	16	70301574	70301574	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:70301574T>C	ENST00000261772.8	-	9	1353	c.1210A>G	c.(1210-1212)Aag>Gag	p.K404E	AARS_ENST00000564359.1_5'Flank	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		GGAATGGTCTTGCTGTCTCCC	0.512											OREG0023913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261772.8																			0				breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27						c.(1210-1212)Aag>Gag		alanyl-tRNA synthetase	L-Alanine(DB00160)						108.0	96.0	100.0					16																	70301574		2198	4300	6498	SO:0001583	missense	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70301574T>C	D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.1210A>G	16.37:g.70301574T>C	ENSP00000261772:p.Lys404Glu		OREG0023913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121		p.K404E	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	9	1353	-		Ovarian(137;0.0365)	404						Missense_Mutation	SNP	ENST00000261772.8	37	c.1210A>G	CCDS32474.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.646906	0.47258	.	.	ENSG00000090861	ENST00000261772	T	0.58797	0.31	5.81	3.48	0.39840	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.271782	0.46145	D	0.000313	T	0.58764	0.2145	L	0.61387	1.9	0.45097	D	0.998112	B;B	0.20459	0.045;0.025	B;B	0.35353	0.061;0.201	T	0.54682	-0.8257	10	0.46703	T	0.11	-8.4684	11.2899	0.49244	0.0:0.0:0.2894:0.7106	.	412;404	E7ETK8;P49588	.;SYAC_HUMAN	E	404	ENSP00000261772:K404E	ENSP00000261772:K404E	K	-	1	0	AARS	68859075	1.000000	0.71417	0.983000	0.44433	0.684000	0.39900	3.947000	0.56652	0.407000	0.25591	0.533000	0.62120	AAG		0.512	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2	NM_001605		39	53	0	0	0	0.005524	0	39	53				
ARHGAP32	9743	broad.mit.edu	37	11	128840160	128840160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:128840160G>A	ENST00000310343.9	-	22	4905	c.4906C>T	c.(4906-4908)Cag>Tag	p.Q1636*	ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.Q1287*|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.Q1287*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1636	Interaction with GAB2.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGCTGAAGCTGAGTGACATGA	0.502																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(4906-4908)Cag>Tag		Rho GTPase activating protein 32							93.0	88.0	90.0					11																	128840160		2201	4297	6498	SO:0001587	stop_gained	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128840160G>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.4906C>T	11.37:g.128840160G>A	ENSP00000310561:p.Gln1636*					ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.Q1287*|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.Q1287*	p.Q1636*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			22	4905	-			1636			Interaction with GAB2.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Nonsense_Mutation	SNP	ENST00000310343.9	37	c.4906C>T	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	41	8.637801	0.98895	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.2033	0.98269	0.0:0.0:1.0:0.0	.	.	.	.	X	1636;1287;1287	.	ENSP00000310561:Q1636X	Q	-	1	0	ARHGAP32	128345370	1.000000	0.71417	0.990000	0.47175	0.882000	0.50991	9.422000	0.97458	2.779000	0.95612	0.655000	0.94253	CAG		0.502	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		26	64	0	0	0	0.005443	0	26	64				
C3orf38	285237	broad.mit.edu	37	3	88199301	88199301	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:88199301C>T	ENST00000318887.3	+	1	409	c.99C>T	c.(97-99)gtC>gtT	p.V33V	CGGBP1_ENST00000462901.1_5'Flank|C3orf38_ENST00000486971.1_Silent_p.V33V	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	33					apoptotic process (GO:0006915)					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GCGACACTGTCACCAACCGCC	0.617																																						ENST00000318887.3																			0				breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(97-99)gtC>gtT		chromosome 3 open reading frame 38							95.0	71.0	79.0					3																	88199301		2203	4300	6503	SO:0001819	synonymous_variant	285237				apoptosis			g.chr3:88199301C>T	AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.99C>T	3.37:g.88199301C>T						C3orf38_ENST00000486971.1_Silent_p.V33V	p.V33V	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	1	409	+		Lung NSC(201;0.17)	33					B2R8X6|Q8TC85	Silent	SNP	ENST00000318887.3	37	c.99C>T	CCDS2921.2																																																																																				0.617	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824		36	46	0	0	0	0.004289	0	36	46				
PDIA6	10130	broad.mit.edu	37	2	10927548	10927548	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:10927548G>T	ENST00000272227.3	-	11	1163	c.1016C>A	c.(1015-1017)gCt>gAt	p.A339D	PDIA6_ENST00000381611.4_Missense_Mutation_p.A344D|PDIA6_ENST00000404824.2_Missense_Mutation_p.A387D|PDIA6_ENST00000540494.1_Missense_Mutation_p.A336D|PDIA6_ENST00000404371.2_Missense_Mutation_p.A391D	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	339					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		CTGGGCTCCAGCTTCTGTCCA	0.468																																					GBM(73;509 1219 34219 41343 41551)	ENST00000404371.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18						c.(1171-1173)gCt>gAt		protein disulfide isomerase family A, member 6							70.0	73.0	72.0					2																	10927548		2203	4300	6503	SO:0001583	missense	10130				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr2:10927548G>T	BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"""Protein disulfide isomerases"""	30168	protein-coding gene	gene with protein product	"""protein disulfide isomerase-related protein"""	611099	"""thioredoxin domain containing 7 (protein disulfide isomerase)"", ""protein disulfide isomerase-associated 6"""	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.1016C>A	2.37:g.10927548G>T	ENSP00000272227:p.Ala339Asp					PDIA6_ENST00000540494.1_Missense_Mutation_p.A336D|PDIA6_ENST00000381611.4_Missense_Mutation_p.A344D|PDIA6_ENST00000272227.3_Missense_Mutation_p.A339D|PDIA6_ENST00000404824.2_Missense_Mutation_p.A387D	p.A391D			Q15084	PDIA6_HUMAN		Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)	13	1509	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		339					B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Missense_Mutation	SNP	ENST00000272227.3	37	c.1172C>A	CCDS1675.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174040	0.94807	.	.	ENSG00000143870	ENST00000272227;ENST00000404371;ENST00000404824;ENST00000540494;ENST00000381611	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	5.77	5.77	0.91146	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.52289	0.1725	M	0.89287	3.02	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;0.999	D;D;D;D	0.83275	0.974;0.991;0.991;0.996	T	0.57894	-0.7732	10	0.87932	D	0	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	336;387;391;339	B7Z254;B5MCQ5;Q15084-2;Q15084	.;.;.;PDIA6_HUMAN	D	339;391;387;336;344	ENSP00000272227:A339D;ENSP00000385385:A391D;ENSP00000384459:A387D;ENSP00000438778:A336D;ENSP00000371024:A344D	ENSP00000272227:A339D	A	-	2	0	PDIA6	10844999	1.000000	0.71417	0.998000	0.56505	0.828000	0.46876	7.858000	0.86971	2.885000	0.99019	0.655000	0.94253	GCT		0.468	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	NM_005742		30	48	1	0	4.3181e-19	0.013726	5.01457e-19	30	48				
ZNF474	133923	broad.mit.edu	37	5	121488728	121488728	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:121488728T>G	ENST00000296600.4	+	2	1426	c.1043T>G	c.(1042-1044)aTt>aGt	p.I348S	CTC-441N14.2_ENST00000504829.1_RNA|CTC-441N14.1_ENST00000505209.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	348							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GATAAGGTAATTCATGCCACA	0.473																																						ENST00000296600.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21						c.(1042-1044)aTt>aGt		zinc finger protein 474							62.0	59.0	60.0					5																	121488728		2203	4300	6503	SO:0001583	missense	133923					intracellular	zinc ion binding	g.chr5:121488728T>G	AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"""Zinc fingers, C2H2-type"""	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.1043T>G	5.37:g.121488728T>G	ENSP00000296600:p.Ile348Ser					ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	p.I348S	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)	2	1426	+		all_cancers(142;0.229)|Prostate(80;0.0387)	348					A8K4M0|Q96M07	Missense_Mutation	SNP	ENST00000296600.4	37	c.1043T>G	CCDS4130.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.513252	0.00975	.	.	ENSG00000164185	ENST00000296600	T	0.50813	0.73	5.43	-1.19	0.09585	.	1.705140	0.04568	U	0.392818	T	0.28366	0.0701	N	0.24115	0.695	0.09310	N	0.999994	B	0.30793	0.295	B	0.30029	0.11	T	0.10314	-1.0635	10	0.07482	T	0.82	.	5.6419	0.17569	0.1381:0.413:0.0:0.4489	.	348	Q6S9Z5	ZN474_HUMAN	S	348	ENSP00000296600:I348S	ENSP00000296600:I348S	I	+	2	0	ZNF474	121516627	0.482000	0.25948	0.029000	0.17559	0.003000	0.03518	0.392000	0.20801	-0.449000	0.07117	-0.899000	0.02877	ATT		0.473	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250883.2	NM_207317		39	84	0	0	0	0.008740	0	39	84				
NOTCH3	4854	broad.mit.edu	37	19	15302555	15302555	+	Splice_Site	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:15302555C>A	ENST00000263388.2	-	5	878		c.e5+1			NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3						forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCAGTGCCCACCTGTCCACTC	0.637																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.e5+1		notch 3							63.0	53.0	56.0					19																	15302555		2203	4300	6503	SO:0001630	splice_region_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15302555C>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.802+1G>T	19.37:g.15302555C>A								NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		5	878	-								Q9UEB3|Q9UPL3|Q9Y6L8	Splice_Site	SNP	ENST00000263388.2	37		CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078336	0.76528	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6449	0.88146	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH3	15163555	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.718000	0.84743	2.463000	0.83235	0.558000	0.71614	.		0.637	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435	Intron	5	51	1	0	3.59834e-05	0.001168	3.81e-05	5	51				
SLC12A7	10723	broad.mit.edu	37	5	1076852	1076852	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:1076852T>C	ENST00000264930.5	-	13	1748	c.1705A>G	c.(1705-1707)Atc>Gtc	p.I569V		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	569					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCGATGAGGATGCCAGTCTCG	0.662																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(1705-1707)Atc>Gtc		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						67.0	61.0	63.0					5																	1076852		2202	4298	6500	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1076852T>C	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1705A>G	5.37:g.1076852T>C	ENSP00000264930:p.Ile569Val						p.I569V	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		13	1748	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		569					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.1705A>G	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	t	9.041	0.989644	0.18966	.	.	ENSG00000113504	ENST00000264930	D	0.98567	-5.0	4.14	1.7	0.24286	Amino acid permease domain (1);	0.056801	0.64402	N	0.000001	D	0.94102	0.8109	N	0.26042	0.785	0.52099	D	0.999942	B	0.28470	0.213	B	0.28139	0.086	D	0.88177	0.2868	10	0.41790	T	0.15	.	6.9779	0.24686	0.0:0.2034:0.0:0.7966	.	569	Q9Y666	S12A7_HUMAN	V	569	ENSP00000264930:I569V	ENSP00000264930:I569V	I	-	1	0	SLC12A7	1129852	1.000000	0.71417	0.997000	0.53966	0.024000	0.10985	3.545000	0.53648	0.133000	0.18654	-0.436000	0.05848	ATC		0.662	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		5	59	0	0	0	0.001168	0	5	59				
CDH9	1007	broad.mit.edu	37	5	26890658	26890658	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:26890658C>T	ENST00000231021.4	-	8	1441	c.1269G>A	c.(1267-1269)cgG>cgA	p.R423R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	423	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TATCAGTATGCCGATCAACAG	0.388																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1267-1269)cgG>cgA		cadherin 9, type 2 (T1-cadherin)							85.0	86.0	86.0					5																	26890658		2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26890658C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1269G>A	5.37:g.26890658C>T							p.R423R	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			8	1441	-			423			Cadherin 4.		Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.1269G>A	CCDS3893.1																																																																																				0.388	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		6	213	0	0	0	0.001168	0	6	213				
ZNF831	128611	broad.mit.edu	37	20	57768699	57768699	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:57768699G>A	ENST00000371030.2	+	1	2625	c.2625G>A	c.(2623-2625)caG>caA	p.Q875Q		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	875							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTGCCAGGCAGGTGGGCGAGC	0.652																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(2623-2625)caG>caA		zinc finger protein 831							26.0	31.0	29.0					20																	57768699		1974	4150	6124	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768699G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2625G>A	20.37:g.57768699G>A							p.Q875Q	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	2625	+	all_lung(29;0.0085)		875					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.2625G>A	CCDS42894.1																																																																																				0.652	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		6	69	0	0	0	0.001984	0	6	69				
UBR2	23304	broad.mit.edu	37	6	42541661	42541661	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:42541661G>A	ENST00000372899.1	+	2	526	c.268G>A	c.(268-270)Gag>Aag	p.E90K	UBR2_ENST00000372901.1_Missense_Mutation_p.E90K|UBR2_ENST00000372903.2_Missense_Mutation_p.E90K	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	90					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TCCAAAACTTGAGCAAGCAAA	0.388																																						ENST00000372899.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(268-270)Gag>Aag		ubiquitin protein ligase E3 component n-recognin 2							123.0	119.0	120.0					6																	42541661		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42541661G>A	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.268G>A	6.37:g.42541661G>A	ENSP00000361990:p.Glu90Lys					UBR2_ENST00000372903.2_Missense_Mutation_p.E90K|UBR2_ENST00000372901.1_Missense_Mutation_p.E90K	p.E90K	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		2	526	+	Colorectal(47;0.196)		90					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.268G>A	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	5.653	0.305140	0.10678	.	.	ENSG00000024048	ENST00000372903;ENST00000372899;ENST00000372901	T;T;T	0.71341	-0.56;0.47;0.47	5.53	4.66	0.58398	.	0.163086	0.53938	D	0.000044	T	0.28400	0.0702	N	0.19112	0.55	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.24977	-1.0145	10	0.02654	T	1	-5.8685	9.8645	0.41134	0.0725:0.1407:0.7869:0.0	.	90;90	Q8IWV8;Q8IWV8-2	UBR2_HUMAN;.	K	90	ENSP00000361994:E90K;ENSP00000361990:E90K;ENSP00000361992:E90K	ENSP00000361990:E90K	E	+	1	0	UBR2	42649639	0.996000	0.38824	1.000000	0.80357	0.974000	0.67602	2.375000	0.44283	1.318000	0.45170	0.655000	0.94253	GAG		0.388	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		434	260	0	0	0	0.014410	0	434	260				
GPR116	221395	broad.mit.edu	37	6	46823756	46823756	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:46823756T>A	ENST00000283296.7	-	20	4204	c.3916A>T	c.(3916-3918)Agt>Tgt	p.S1306C	GPR116_ENST00000362015.4_Missense_Mutation_p.S1286C|GPR116_ENST00000545669.1_Missense_Mutation_p.S735C|GPR116_ENST00000265417.7_Missense_Mutation_p.S1306C|GPR116_ENST00000456426.2_Missense_Mutation_p.S1164C	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1306					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ATTGGAGAACTCATAGAAAAC	0.413																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(3916-3918)Agt>Tgt		G protein-coupled receptor 116							54.0	49.0	50.0					6																	46823756		2203	4296	6499	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46823756T>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3916A>T	6.37:g.46823756T>A	ENSP00000283296:p.Ser1306Cys					GPR116_ENST00000545669.1_Missense_Mutation_p.S735C|GPR116_ENST00000265417.7_Missense_Mutation_p.S1306C|GPR116_ENST00000456426.2_Missense_Mutation_p.S1164C|GPR116_ENST00000362015.4_Missense_Mutation_p.S1286C	p.S1306C	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		20	4204	-			1306					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.3916A>T	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.070909	0.76301	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45	5.42	5.42	0.78866	.	0.174217	0.42294	D	0.000731	T	0.49660	0.1570	N	0.24115	0.695	0.35268	D	0.780227	P;P;D;D;D	0.89917	0.865;0.777;1.0;1.0;1.0	P;B;D;D;D	0.78314	0.593;0.199;0.991;0.989;0.991	T	0.61004	-0.7150	10	0.87932	D	0	-15.2887	14.0021	0.64439	0.0:0.0:0.0:1.0	.	735;861;1286;1164;1306	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	C	1306;1306;1286;1164;677;1306;735	ENSP00000283296:S1306C;ENSP00000354563:S1286C;ENSP00000412866:S1164C;ENSP00000265417:S1306C;ENSP00000441581:S735C	ENSP00000265417:S1306C	S	-	1	0	GPR116	46931715	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.286000	0.51724	2.182000	0.69389	0.528000	0.53228	AGT		0.413	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		5	193	0	0	0	0.000602	0	5	193				
NWD1	284434	broad.mit.edu	37	19	16910759	16910759	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:16910759G>A	ENST00000552788.1	+	15	3522	c.3522G>A	c.(3520-3522)gtG>gtA	p.V1174V	NWD1_ENST00000549814.1_Intron|NWD1_ENST00000523826.1_Silent_p.V968V|NWD1_ENST00000339803.6_Silent_p.V1039V|NWD1_ENST00000379808.3_Silent_p.V1174V|NWD1_ENST00000524140.2_Silent_p.V1174V|CTD-2538G9.6_ENST00000601661.1_RNA			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1174							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGGCCCCCGTGAGCCTGCTGG	0.617																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3520-3522)gtG>gtA		NACHT and WD repeat domain containing 1							42.0	44.0	44.0					19																	16910759		2203	4300	6503	SO:0001819	synonymous_variant	284434						ATP binding	g.chr19:16910759G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3522G>A	19.37:g.16910759G>A						NWD1_ENST00000552788.1_Silent_p.V1174V|NWD1_ENST00000549814.1_Intron|NWD1_ENST00000523826.1_Silent_p.V968V|NWD1_ENST00000379808.3_Silent_p.V1174V|NWD1_ENST00000339803.6_Silent_p.V1039V	p.V1174V	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			17	3940	+			1174					C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37	c.3522G>A																																																																																					0.617	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		36	61	0	0	0	0.010771	0	36	61				
SIK3	23387	broad.mit.edu	37	11	116968939	116968939	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:116968939A>T	ENST00000292055.4	-	1	54	c.19T>A	c.(19-21)Tac>Aac	p.Y7N	SIK3_ENST00000434315.2_5'UTR|AP000936.4_ENST00000442124.1_RNA|SIK3_ENST00000375300.1_Missense_Mutation_p.Y65N|SIK3_ENST00000446921.2_Missense_Mutation_p.Y65N|SIK3_ENST00000542607.1_Missense_Mutation_p.Y7N|SIK3_ENST00000375288.1_5'UTR	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	7					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ATCTCGTAGTAGCCGATACGG	0.751																																						ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(193-195)Tac>Aac		SIK family kinase 3							18.0	16.0	17.0					11																	116968939		2160	4256	6416	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116968939A>T	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.19T>A	11.37:g.116968939A>T	ENSP00000292055:p.Tyr7Asn					SIK3_ENST00000542607.1_Missense_Mutation_p.Y7N|SIK3_ENST00000292055.4_Missense_Mutation_p.Y7N|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000434315.2_5'UTR|SIK3_ENST00000446921.2_Missense_Mutation_p.Y65N	p.Y65N			Q9Y2K2	SIK3_HUMAN			1	198	-			7			Protein kinase.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.193T>A	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.28|10.28	1.305308|1.305308	0.23736|0.23736	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921|ENST00000375300;ENST00000292055;ENST00000542607	.|T;T;T	.|0.21031	.|2.03;2.03;2.03	2.67|2.67	2.67|2.67	0.31697|0.31697	.|Protein kinase-like domain (1);	.|.	.|.	.|.	.|.	T|T	0.06280|0.06280	0.0162|0.0162	N|N	0.00985|0.00985	-1.075|-1.075	0.80722|0.80722	D|D	1|1	.|B;B	.|0.19583	.|0.037;0.003	.|B;B	.|0.20384	.|0.029;0.004	T|T	0.23726|0.23726	-1.0180|-1.0180	5|9	.|0.12430	.|T	.|0.62	.|.	9.8317|9.8317	0.40946|0.40946	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|7;7	.|A1A5A8;Q9Y2K2	.|.;SIK3_HUMAN	Q|N	58;29|65;7;7	.|ENSP00000364449:Y65N;ENSP00000292055:Y7N;ENSP00000438108:Y7N	.|ENSP00000292055:Y7N	L|Y	-|-	2|1	0|0	SIK3|SIK3	116474149|116474149	1.000000|1.000000	0.71417|0.71417	0.369000|0.369000	0.25952|0.25952	0.017000|0.017000	0.09413|0.09413	1.717000|1.717000	0.37991|0.37991	1.239000|1.239000	0.43787|0.43787	0.378000|0.378000	0.23410|0.23410	CTA|TAC		0.751	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		4	1	0	0	0	0.000602	0	4	1				
ATP8A1	10396	broad.mit.edu	37	4	42618092	42618092	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:42618092G>C	ENST00000381668.5	-	5	598	c.367C>G	c.(367-369)Cga>Gga	p.R123G	ATP8A1_ENST00000264449.10_Missense_Mutation_p.R123G	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	123					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GCTTTATGTCGTTTCTAAAGT	0.299																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(367-369)Cga>Gga		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						171.0	163.0	166.0					4																	42618092		2200	4300	6500	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42618092G>C	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.367C>G	4.37:g.42618092G>C	ENSP00000371084:p.Arg123Gly					ATP8A1_ENST00000264449.10_Missense_Mutation_p.R123G	p.R123G	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			5	598	-			123					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.367C>G	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052996	0.55218	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	D;D	0.85629	-2.01;-2.01	5.96	5.96	0.96718	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.96137	0.8741	H	0.99800	4.79	0.80722	D	1	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.97110	0.982;1.0;1.0	D	0.97105	0.9800	10	0.72032	D	0.01	.	13.3173	0.60415	0.0:0.0:0.7407:0.2593	.	123;123;123	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	G	123	ENSP00000371084:R123G;ENSP00000264449:R123G	ENSP00000264449:R123G	R	-	1	2	ATP8A1	42312849	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	4.497000	0.60367	2.831000	0.97527	0.650000	0.86243	CGA		0.299	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		39	84	0	0	0	0.008740	0	39	84				
VARS2	57176	broad.mit.edu	37	6	30890912	30890912	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:30890912C>T	ENST00000321897.5	+	23	2849	c.2217C>T	c.(2215-2217)gtC>gtT	p.V739V	VARS2_ENST00000542001.1_Silent_p.V599V|VARS2_ENST00000541562.1_Silent_p.V769V|VARS2_ENST00000416670.2_Silent_p.V739V|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	739					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TCTCTGAGGTCCAGAGCTGCC	0.542																																						ENST00000321897.5																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(2215-2217)gtC>gtT		valyl-tRNA synthetase 2, mitochondrial							93.0	98.0	96.0					6																	30890912		1510	2708	4218	SO:0001819	synonymous_variant	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30890912C>T	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2217C>T	6.37:g.30890912C>T						VARS2_ENST00000416670.2_Silent_p.V739V|VARS2_ENST00000542001.1_Silent_p.V599V|VARS2_ENST00000541562.1_Silent_p.V769V|VARS2_ENST00000476162.1_3'UTR	p.V739V			Q5ST30	SYVM_HUMAN			23	2849	+			739					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Silent	SNP	ENST00000321897.5	37	c.2217C>T	CCDS34387.1																																																																																				0.542	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		93	95	0	0	0	0.014410	0	93	95				
ZFHX4	79776	broad.mit.edu	37	8	77618806	77618806	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:77618806A>G	ENST00000521891.2	+	2	2931	c.2483A>G	c.(2482-2484)aAc>aGc	p.N828S	ZFHX4_ENST00000455469.2_Missense_Mutation_p.N828S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N828S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.N828S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	828					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTAGCCCAGAACATAGGCCTG	0.542										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(2482-2484)aAc>aGc		zinc finger homeobox 4							17.0	17.0	17.0					8																	77618806		1986	4164	6150	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618806A>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2483A>G	8.37:g.77618806A>G	ENSP00000430497:p.Asn828Ser	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.N828S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.N828S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.N828S|ZFHX4_ENST00000517683.1_Intron	p.N828S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2931	+			828					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.2483A>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	11.36	1.614346	0.28712	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53206	0.66;0.66;0.63;0.63	4.91	4.91	0.64330	.	0.000000	0.47093	U	0.000251	T	0.61800	0.2376	L	0.52364	1.645	0.80722	D	1	D;D;D;B	0.67145	0.993;0.996;0.996;0.178	D;D;D;B	0.73380	0.956;0.98;0.98;0.234	T	0.60969	-0.7157	10	0.41790	T	0.15	.	14.9861	0.71348	1.0:0.0:0.0:0.0	.	828;828;828;828	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	S	828	ENSP00000430497:N828S;ENSP00000399605:N828S;ENSP00000050961:N828S;ENSP00000430848:N828S	ENSP00000050961:N828S	N	+	2	0	ZFHX4	77781361	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.335000	0.79234	2.179000	0.69175	0.477000	0.44152	AAC		0.542	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		11	18	0	0	0	0.010729	0	11	18				
KMT2C	58508	broad.mit.edu	37	7	151842348	151842348	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:151842348G>T	ENST00000262189.6	-	54	14282	c.14064C>A	c.(14062-14064)acC>acA	p.T4688T	KMT2C_ENST00000485655.2_5'Flank|KMT2C_ENST00000355193.2_Silent_p.T4745T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4688	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CGTATCGGAAGGTATAATTTT	0.483																																						ENST00000355193.2																			0											c.(14233-14235)acC>acA		lysine (K)-specific methyltransferase 2C							83.0	73.0	76.0					7																	151842348		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151842348G>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.14064C>A	7.37:g.151842348G>T						KMT2C_ENST00000262189.6_Silent_p.T4688T	p.T4745T							55	14453	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.14235C>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	9.206	1.029600	0.19512	.	.	ENSG00000055609	ENST00000360104	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	T	0.56108	0.1963	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55457	-0.8138	4	.	.	.	.	5.9035	0.18980	0.0749:0.1368:0.6466:0.1417	.	.	.	.	I	2249	.	.	L	-	1	0	MLL3	151473281	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.620000	0.24403	2.607000	0.88179	0.655000	0.94253	CTT		0.483	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			36	80	1	0	2.09667e-21	0.003755	2.45463e-21	36	80				
EDNRB	1910	broad.mit.edu	37	13	78477314	78477314	+	Missense_Mutation	SNP	C	C	A	rs77132068	byFrequency	TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:78477314C>A	ENST00000334286.5	-	3	1014	c.778G>T	c.(778-780)Gtt>Ttt	p.V260F	EDNRB_ENST00000377211.4_Missense_Mutation_p.V350F|EDNRB_ENST00000446573.1_Missense_Mutation_p.V260F	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	260					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	GTCTTCTGAACGGGATGAAGC	0.408													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20053	0.0		0.001	False		,,,				2504	0.0					ENST00000377211.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42						c.(1048-1050)Gtt>Ttt		endothelin receptor type B	Bosentan(DB00559)	C	PHE/VAL,PHE/VAL,PHE/VAL,PHE/VAL	0,4406		0,0,2203	127.0	128.0	128.0		778,778,1048,778	0.3	0.0	13	dbSNP_131	128	19,8581	13.3+/-46.6	0,19,4281	yes	missense,missense,missense,missense	EDNRB	NM_000115.3,NM_001122659.2,NM_001201397.1,NM_003991.3	50,50,50,50	0,19,6484	AA,AC,CC		0.2209,0.0,0.1461	benign,benign,benign,benign	260/443,260/443,350/533,260/437	78477314	19,12987	2203	4300	6503	SO:0001583	missense	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78477314C>A	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.778G>T	13.37:g.78477314C>A	ENSP00000335311:p.Val260Phe					EDNRB_ENST00000446573.1_Missense_Mutation_p.V260F|EDNRB_ENST00000334286.5_Missense_Mutation_p.V260F	p.V350F	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	4	1200	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	260					A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	c.1048G>T	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	C	0.271	-0.992745	0.02162	0.0	0.002209	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.72505	-0.66;-0.66;-0.66	5.62	0.295	0.15752	GPCR, rhodopsin-like superfamily (1);	0.448229	0.28257	N	0.016005	T	0.44074	0.1276	N	0.21282	0.65	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.15052	0.007;0.009;0.012	T	0.13764	-1.0497	10	0.09338	T	0.73	-0.6465	1.8191	0.03106	0.1214:0.2116:0.126:0.5409	.	260;350;260	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	F	350;260;260	ENSP00000366416:V350F;ENSP00000403401:V260F;ENSP00000335311:V260F	ENSP00000335311:V260F	V	-	1	0	EDNRB	77375315	0.000000	0.05858	0.007000	0.13788	0.559000	0.35586	0.083000	0.14871	-0.160000	0.11002	-0.312000	0.09012	GTT		0.408	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			25	262	1	0	9.57634e-11	0.003330	1.08582e-10	25	262				
DDX60L	91351	broad.mit.edu	37	4	169392986	169392986	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:169392986C>T	ENST00000511577.1	-	4	423	c.176G>A	c.(175-177)gGa>gAa	p.G59E	DDX60L_ENST00000505890.1_Missense_Mutation_p.G59E|DDX60L_ENST00000260184.7_Missense_Mutation_p.G59E|DDX60L_ENST00000515088.1_5'UTR|SNORA51_ENST00000384442.1_RNA			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	59							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GAGATTCTGTCCCCACTTGAA	0.353																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(175-177)gGa>gAa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							89.0	87.0	87.0					4																	169392986		1925	4167	6092	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169392986C>T	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.176G>A	4.37:g.169392986C>T	ENSP00000422423:p.Gly59Glu					DDX60L_ENST00000515088.1_5'UTR|DDX60L_ENST00000505890.1_Missense_Mutation_p.G59E|DDX60L_ENST00000260184.7_Missense_Mutation_p.G59E	p.G59E			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	4	423	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	59					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.176G>A		.	.	.	.	.	.	.	.	.	.	C	16.35	3.097842	0.56075	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505696;ENST00000514748;ENST00000512371	T;T;T	0.25579	1.79;1.79;1.79	4.23	4.23	0.50019	.	0.000000	0.31041	U	0.008366	T	0.46268	0.1384	M	0.68317	2.08	0.24839	N	0.992472	D;D;D	0.76494	0.999;0.991;0.987	D;P;P	0.71656	0.974;0.669;0.724	T	0.30822	-0.9965	10	0.52906	T	0.07	.	12.4771	0.55821	0.1682:0.8318:0.0:0.0	.	59;59;59	D6RB62;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	E	59	ENSP00000260184:G59E;ENSP00000422423:G59E;ENSP00000422202:G59E	ENSP00000260184:G59E	G	-	2	0	DDX60L	169629561	0.096000	0.21769	0.076000	0.20297	0.845000	0.48019	1.179000	0.31993	1.846000	0.53633	0.467000	0.42956	GGA		0.353	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		45	92	0	0	0	0.011902	0	45	92				
MPRIP	23164	broad.mit.edu	37	17	17064559	17064559	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:17064559G>C	ENST00000341712.4	+	15	2052	c.2052G>C	c.(2050-2052)gaG>gaC	p.E684D	MPRIP_ENST00000395811.5_Missense_Mutation_p.E684D|MPRIP_ENST00000395804.3_Missense_Mutation_p.E684D|MPRIP_ENST00000444976.1_Missense_Mutation_p.E646D			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	684	Interaction with RHOA.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AACAGCTGGAGCAGAGCCAGA	0.567																																						ENST00000395811.5																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(2050-2052)gaG>gaC		myosin phosphatase Rho interacting protein							27.0	27.0	27.0					17																	17064559		2203	4300	6503	SO:0001583	missense	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17064559G>C	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2052G>C	17.37:g.17064559G>C	ENSP00000342379:p.Glu684Asp					MPRIP_ENST00000341712.4_Missense_Mutation_p.E684D|MPRIP_ENST00000395804.3_Missense_Mutation_p.E684D|MPRIP_ENST00000444976.1_Missense_Mutation_p.E646D	p.E684D	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN			15	2141	+			684			Interaction with RHOA.		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	c.2052G>C	CCDS32578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.22|17.22	3.335228|3.335228	0.60853|0.60853	.|.	.|.	ENSG00000133030|ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712|ENST00000423885	T;T;T;T|.	0.27557|.	1.66;1.99;2.0;2.0|.	5.32|5.32	2.85|2.85	0.33270|0.33270	.|.	.|.	.|.	.|.	.|.	T|T	0.33000|0.33000	0.0848|0.0848	N|N	0.08118|0.08118	0|0	0.48632|0.48632	D|D	0.999687|0.999687	D;P|.	0.76494|.	0.999;0.924|.	D;P|.	0.77557|.	0.99;0.452|.	T|T	0.05131|0.05131	-1.0904|-1.0904	9|5	0.51188|.	T|.	0.08|.	.|.	10.3773|10.3773	0.44090|0.44090	0.1847:0.0:0.8153:0.0|0.1847:0.0:0.8153:0.0	.|.	684;684|.	Q6WCQ1-2;Q6WCQ1|.	.;MPRIP_HUMAN|.	D|T	646;684;684;684|171	ENSP00000400189:E646D;ENSP00000379156:E684D;ENSP00000379149:E684D;ENSP00000342379:E684D|.	ENSP00000342379:E684D|.	E|S	+|+	3|2	2|0	MPRIP|MPRIP	17005284|17005284	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.736000|0.736000	0.42039|0.42039	1.829000|1.829000	0.39121|0.39121	0.634000|0.634000	0.30469|0.30469	-0.251000|-0.251000	0.11542|0.11542	GAG|AGC		0.567	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		22	23	0	0	0	0.003330	0	22	23				
PLEKHA3	65977	broad.mit.edu	37	2	179360386	179360386	+	Splice_Site	SNP	T	T	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:179360386T>G	ENST00000234453.5	+	5	1016	c.614T>G	c.(613-615)aTg>aGg	p.M205R		NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	205						Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			CCTGTTCAAATGGTTTGAACT	0.398																																						ENST00000234453.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11						c.e5+1		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							167.0	147.0	154.0					2																	179360386		2203	4300	6503	SO:0001630	splice_region_variant	65977					cytoplasm|membrane		g.chr2:179360386T>G	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.615+1T>G	2.37:g.179360386T>G							p.M205_splice	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)		5	1016	+			205					Q4ZG69|Q86TQ1|Q9NXT3	Splice_Site	SNP	ENST00000234453.5	37	c.615_splice	CCDS33336.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.055104	0.75960	.	.	ENSG00000116095	ENST00000234453;ENST00000421187	T	0.11930	2.73	5.37	5.37	0.77165	.	0.259853	0.49305	D	0.000152	T	0.10035	0.0246	L	0.27053	0.805	0.54753	D	0.99998	P	0.42827	0.791	B	0.34385	0.181	T	0.15435	-1.0437	10	0.35671	T	0.21	5.0401	15.6672	0.77238	0.0:0.0:0.0:1.0	.	205	Q9HB20	PKHA3_HUMAN	R	205;14	ENSP00000234453:M205R	ENSP00000234453:M205R	M	+	2	0	PLEKHA3	179068632	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.148000	0.58085	2.158000	0.67659	0.460000	0.39030	ATG		0.398	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091	Missense_Mutation	97	223	0	0	0	0.014410	0	97	223				
MUC16	94025	broad.mit.edu	37	19	9046473	9046473	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:9046473C>T	ENST00000397910.4	-	5	35361	c.35158G>A	c.(35158-35160)Gcc>Acc	p.A11720T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11722	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGACTGGTGGCCATTACAGGT	0.517																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(35158-35160)Gcc>Acc		mucin 16, cell surface associated							125.0	119.0	121.0					19																	9046473		1983	4158	6141	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046473C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35158G>A	19.37:g.9046473C>T	ENSP00000381008:p.Ala11720Thr						p.A11720T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	35361	-			11722			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.35158G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	9.727	1.161141	0.21538	.	.	ENSG00000181143	ENST00000397910	T	0.03272	3.99	3.18	3.18	0.36537	.	.	.	.	.	T	0.09113	0.0225	L	0.54323	1.7	.	.	.	D	0.58268	0.982	P	0.57425	0.82	T	0.04825	-1.0924	8	0.87932	D	0	.	6.3844	0.21552	0.0:0.8679:0.0:0.1321	.	11720	B5ME49	.	T	11720	ENSP00000381008:A11720T	ENSP00000381008:A11720T	A	-	1	0	MUC16	8907473	0.000000	0.05858	0.003000	0.11579	0.061000	0.15899	-0.452000	0.06787	2.100000	0.63781	0.556000	0.70494	GCC		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	143	0	0	0	0.009096	0	4	143				
KIAA1549	57670	broad.mit.edu	37	7	138602905	138602905	+	Silent	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:138602905A>G	ENST00000422774.1	-	2	1515	c.1467T>C	c.(1465-1467)ccT>ccC	p.P489P	KIAA1549_ENST00000440172.1_Silent_p.P489P|KIAA1549_ENST00000242365.4_Silent_p.P439P			Q9HCM3	K1549_HUMAN	KIAA1549	489						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTGGGACGATAGGTCTGGAGG	0.458			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(1465-1467)ccT>ccC		KIAA1549							35.0	35.0	35.0					7																	138602905		1932	4151	6083	SO:0001819	synonymous_variant	57670					integral to membrane		g.chr7:138602905A>G		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.1467T>C	7.37:g.138602905A>G						KIAA1549_ENST00000422774.1_Silent_p.P489P|KIAA1549_ENST00000242365.4_Silent_p.P439P	p.P489P	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			2	1515	-			489					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.1467T>C	CCDS56513.1																																																																																				0.458	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			17	27	0	0	0	0.004990	0	17	27				
EPS15L1	58513	broad.mit.edu	37	19	16539554	16539554	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:16539554T>A	ENST00000248070.6	-	8	656	c.517A>T	c.(517-519)Att>Ttt	p.I173F	EPS15L1_ENST00000455140.2_Missense_Mutation_p.I173F|EPS15L1_ENST00000597937.1_Missense_Mutation_p.I173F|EPS15L1_ENST00000535753.2_Missense_Mutation_p.I173F|EPS15L1_ENST00000594975.1_Missense_Mutation_p.I173F|EPS15L1_ENST00000602009.1_Missense_Mutation_p.I19F	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	173	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TCCTTGTCAATGTCACTGAGG	0.577																																						ENST00000602009.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						c.(55-57)Att>Ttt		epidermal growth factor receptor pathway substrate 15-like 1							127.0	75.0	93.0					19																	16539554		2203	4300	6503	SO:0001583	missense	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16539554T>A	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.517A>T	19.37:g.16539554T>A	ENSP00000248070:p.Ile173Phe					EPS15L1_ENST00000248070.6_Missense_Mutation_p.I173F|EPS15L1_ENST00000455140.2_Missense_Mutation_p.I173F|EPS15L1_ENST00000597937.1_Missense_Mutation_p.I173F|EPS15L1_ENST00000594975.1_Missense_Mutation_p.I173F|EPS15L1_ENST00000535753.2_Missense_Mutation_p.I173F	p.I19F			Q9UBC2	EP15R_HUMAN			2	950	-			173			EH 1.		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	c.55A>T	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	t	20.3	3.971262	0.74246	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.39056	1.1;1.1;1.1	4.87	4.87	0.63330	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.60379	0.2264	M	0.73753	2.245	0.58432	D	0.999994	D;D;D;D;D;D	0.76494	0.992;0.996;0.999;0.999;0.998;0.995	D;D;D;D;D;D	0.76575	0.944;0.972;0.988;0.988;0.985;0.965	T	0.59161	-0.7506	10	0.13470	T	0.59	.	13.706	0.62639	0.0:0.0:0.0:1.0	.	173;173;172;173;173;173	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	F	173	ENSP00000393313:I173F;ENSP00000248070:I173F;ENSP00000440103:I173F	ENSP00000248070:I173F	I	-	1	0	EPS15L1	16400554	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	3.927000	0.56499	1.835000	0.53391	0.449000	0.29647	ATT		0.577	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		7	22	0	0	0	0.004482	0	7	22				
DAPL1	92196	broad.mit.edu	37	2	159672329	159672329	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:159672329G>T	ENST00000309950.3	+	4	376	c.320G>T	c.(319-321)tGt>tTt	p.C107F	DAPL1_ENST00000409042.1_Intron	NM_001017920.2	NP_001017920.2	A0PJW8	DAPL1_HUMAN	death associated protein-like 1	107					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)					prostate(1)	1						CCTCGAAAATGTTAAGCCTGG	0.478																																						ENST00000309950.3																			0				prostate(1)	1						c.(319-321)tGt>tTt		death associated protein-like 1							86.0	80.0	82.0					2																	159672329		2203	4300	6503	SO:0001583	missense	92196				apoptosis|cell differentiation			g.chr2:159672329G>T		CCDS33307.1	2q24	2007-06-26			ENSG00000163331	ENSG00000163331			21490	protein-coding gene	gene with protein product							Standard	NM_001017920		Approved		uc002uaf.3	A0PJW8	OTTHUMG00000153970	ENST00000309950.3:c.320G>T	2.37:g.159672329G>T	ENSP00000309538:p.Cys107Phe					DAPL1_ENST00000409042.1_Intron	p.C107F	NM_001017920.2	NP_001017920.2	A0PJW8	DAPL1_HUMAN			4	376	+			107					A0PJW9|B9EIK6	Missense_Mutation	SNP	ENST00000309950.3	37	c.320G>T	CCDS33307.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685777	0.68157	.	.	ENSG00000163331	ENST00000309950	T	0.40476	1.03	5.58	4.7	0.59300	.	0.107287	0.64402	D	0.000005	T	0.41858	0.1177	N	0.24115	0.695	0.80722	D	1	D	0.54047	0.964	P	0.53954	0.738	T	0.37776	-0.9691	10	0.87932	D	0	.	12.7345	0.57216	0.0819:0.0:0.9181:0.0	.	107	A0PJW8	DAPL1_HUMAN	F	107	ENSP00000309538:C107F	ENSP00000309538:C107F	C	+	2	0	DAPL1	159380575	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.316000	0.59178	2.641000	0.89580	0.563000	0.77884	TGT		0.478	DAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333265.1	NM_001017920		15	111	1	0	6.31663e-08	0.003163	7.10621e-08	15	111				
SRGAP2	23380	broad.mit.edu	37	1	206566922	206566922	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:206566922G>T	ENST00000414007.1	+	3	303	c.303G>T	c.(301-303)gaG>gaT	p.E101D	SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	241	F-BAR domain.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					AGTACACGGAGAATAAGCTGA	0.423																																						ENST00000414007.1																			0				NS(1)|breast(1)|kidney(1)|lung(1)	4						c.(301-303)gaG>gaT		SLIT-ROBO Rho GTPase activating protein 2							107.0	90.0	96.0					1																	206566922		1929	4148	6077	SO:0001583	missense	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206566922G>T	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.303G>T	1.37:g.206566922G>T	ENSP00000390898:p.Glu101Asp					SRGAP2_ENST00000419187.2_5'UTR	p.E101D			O75044	FNBP2_HUMAN			3	303	+	Breast(84;0.137)		241						Missense_Mutation	SNP	ENST00000414007.1	37	c.303G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.09|18.09	3.545526|3.545526	0.65198|0.65198	.|.	.|.	ENSG00000163486|ENSG00000163486	ENST00000414359;ENST00000414007|ENST00000295713	T|.	0.15603|.	2.41|.	5.59|5.59	3.69|3.69	0.42338|0.42338	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.58380|.	0.2118|.	.|.	.|.	.|.	0.30974|.	N|.	0.7227589999999999|.	D;B;D|.	0.69078|.	0.997;0.328;0.972|.	D;P;P|.	0.72625|.	0.978;0.542;0.867|.	T|.	0.69510|.	-0.5126|.	8|.	0.41790|0.66056	T|D	0.15|0.02	.|.	9.2562|9.2562	0.37584|0.37584	0.3376:0.0:0.6624:0.0|0.3376:0.0:0.6624:0.0	.|.	88;241;241|.	B4DDU0;O75044;B7Z3G4|.	.;FNBP2_HUMAN;.|.	D|X	155;101|155	ENSP00000390898:E101D|.	ENSP00000390898:E101D|ENSP00000295713:E155X	E|E	+|+	3|1	2|0	SRGAP2|SRGAP2	204633545|204633545	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.986000|0.986000	0.74619|0.74619	3.259000|3.259000	0.51515|0.51515	0.694000|0.694000	0.31654|0.31654	0.555000|0.555000	0.69702|0.69702	GAG|GAA		0.423	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		5	119	1	0	0.000157383	0.003080	0.000165425	5	119				
HSD17B2	3294	broad.mit.edu	37	16	82131925	82131925	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:82131925C>T	ENST00000199936.4	+	5	1241	c.1048C>T	c.(1048-1050)Ctt>Ttt	p.L350F	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	350					in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|response to retinoic acid (GO:0032526)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						GTGGATCTGCCTTGCTCACTA	0.483																																						ENST00000199936.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(1048-1050)Ctt>Ttt		hydroxysteroid (17-beta) dehydrogenase 2	NADH(DB00157)						162.0	146.0	152.0					16																	82131925		2201	4300	6501	SO:0001583	missense	3294				response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr16:82131925C>T		CCDS10936.1	16q24.1-q24.2	2011-09-14			ENSG00000086696	ENSG00000086696	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5211	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 2"""	109685				7759109, 19027726	Standard	NM_002153		Approved	HSD17, SDR9C2	uc002fgv.3	P37059	OTTHUMG00000137631	ENST00000199936.4:c.1048C>T	16.37:g.82131925C>T	ENSP00000199936:p.Leu350Phe					RP11-510J16.5_ENST00000567021.1_RNA	p.L350F	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN			5	1241	+			350					B2R7T4	Missense_Mutation	SNP	ENST00000199936.4	37	c.1048C>T	CCDS10936.1	.	.	.	.	.	.	.	.	.	.	c	9.577	1.122454	0.20877	.	.	ENSG00000086696	ENST00000199936	T	0.46063	0.88	5.57	-9.13	0.00704	NAD(P)-binding domain (1);	2.396640	0.01113	N	0.005610	T	0.16342	0.0393	N	0.05534	-0.03	0.09310	N	1	B	0.12630	0.006	B	0.14578	0.011	T	0.09751	-1.0660	10	0.28530	T	0.3	.	0.6444	0.00816	0.4215:0.1611:0.1824:0.235	.	350	P37059	DHB2_HUMAN	F	350	ENSP00000199936:L350F	ENSP00000199936:L350F	L	+	1	0	HSD17B2	80689426	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.372000	0.02570	-1.335000	0.02241	-0.290000	0.09829	CTT		0.483	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269057.2	NM_002153		92	157	0	0	0	0.014410	0	92	157				
SLIT1	6585	broad.mit.edu	37	10	98817000	98817000	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:98817000C>T	ENST00000266058.4	-	12	1369	c.1124G>A	c.(1123-1125)gGt>gAt	p.G375D	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.G375D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	375					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCCAAACACACCACGGGGGAG	0.567																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(1123-1125)gGt>gAt		slit homolog 1 (Drosophila)							96.0	86.0	89.0					10																	98817000		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98817000C>T	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1124G>A	10.37:g.98817000C>T	ENSP00000266058:p.Gly375Asp					SLIT1_ENST00000371070.4_Missense_Mutation_p.G375D|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	p.G375D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	12	1369	-		Colorectal(252;0.162)	375					Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.1124G>A	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830854	0.91036	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008	T;T;T	0.58652	0.32;0.32;0.32	5.73	5.73	0.89815	.	0.050832	0.85682	D	0.000000	T	0.68997	0.3062	L	0.33093	0.98	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.79108	0.992;0.974	T	0.70457	-0.4866	10	0.66056	D	0.02	.	19.4934	0.95062	0.0:1.0:0.0:0.0	.	385;375	E7EWQ8;O75093	.;SLIT1_HUMAN	D	375;385;351;375;368;351	ENSP00000266058:G375D;ENSP00000360109:G375D;ENSP00000315005:G368D	ENSP00000266058:G375D	G	-	2	0	SLIT1	98806990	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.361000	0.79497	2.713000	0.92767	0.655000	0.94253	GGT		0.567	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		33	64	0	0	0	0.004878	0	33	64				
VRTN	55237	broad.mit.edu	37	14	74823530	74823530	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:74823530T>G	ENST00000256362.4	+	2	285	c.44T>G	c.(43-45)cTg>cGg	p.L15R		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	15					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CTGCAGGAGCTGCAGGAAGCA	0.587																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(43-45)cTg>cGg		vertebrae development associated							84.0	80.0	81.0					14																	74823530		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74823530T>G	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.44T>G	14.37:g.74823530T>G	ENSP00000256362:p.Leu15Arg						p.L15R	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	285	+			15					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.44T>G	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.410273	0.62399	.	.	ENSG00000133980	ENST00000557177;ENST00000256362	T;T	0.46819	0.86;0.86	4.9	4.9	0.64082	.	0.087858	0.47455	D	0.000239	T	0.52075	0.1712	L	0.27053	0.805	0.50313	D	0.999863	D	0.61697	0.99	P	0.61722	0.893	T	0.57075	-0.7873	10	0.87932	D	0	0.0368	13.2353	0.59967	0.0:0.0:0.0:1.0	.	15	Q9H8Y1	VRTN_HUMAN	R	15	ENSP00000452158:L15R;ENSP00000256362:L15R	ENSP00000256362:L15R	L	+	2	0	VRTN	73893283	1.000000	0.71417	0.999000	0.59377	0.854000	0.48673	7.097000	0.76967	2.059000	0.61396	0.459000	0.35465	CTG		0.587	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		27	45	0	0	0	0.004878	0	27	45				
CHST10	9486	broad.mit.edu	37	2	101009797	101009797	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:101009797G>C	ENST00000264249.3	-	7	1366	c.981C>G	c.(979-981)atC>atG	p.I327M	CHST10_ENST00000409701.1_Missense_Mutation_p.I327M|CHST10_ENST00000542617.1_Missense_Mutation_p.I375M	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	327					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						CTCGTTTGCTGATGCCCAGGA	0.488																																						ENST00000264249.3																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						c.(979-981)atC>atG		carbohydrate sulfotransferase 10							149.0	135.0	140.0					2																	101009797		2203	4300	6503	SO:0001583	missense	9486				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		g.chr2:101009797G>C	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.981C>G	2.37:g.101009797G>C	ENSP00000264249:p.Ile327Met					CHST10_ENST00000409701.1_Missense_Mutation_p.I327M|CHST10_ENST00000542617.1_Missense_Mutation_p.I375M	p.I327M	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN			7	1366	-			327					Q53T18	Missense_Mutation	SNP	ENST00000264249.3	37	c.981C>G	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.453035	0.63290	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701	T;T;T	0.75938	2.02;-0.98;2.02	5.91	2.91	0.33838	.	0.237597	0.49916	D	0.000133	T	0.74512	0.3726	M	0.63843	1.955	0.52099	D	0.999947	P	0.42518	0.782	P	0.51742	0.678	T	0.72137	-0.4381	10	0.54805	T	0.06	-15.0746	3.0047	0.06025	0.1557:0.0909:0.4562:0.2972	.	327	O43529	CHSTA_HUMAN	M	327;375;327	ENSP00000264249:I327M;ENSP00000438869:I375M;ENSP00000387309:I327M	ENSP00000264249:I327M	I	-	3	3	CHST10	100376229	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	1.358000	0.34102	0.804000	0.34136	-0.140000	0.14226	ATC		0.488	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		14	204	0	0	0	0.003163	0	14	204				
AVIL	10677	broad.mit.edu	37	12	58207197	58207197	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:58207197C>A	ENST00000257861.3	-	3	581	c.151G>T	c.(151-153)Gtg>Ttg	p.V51L	RP11-571M6.18_ENST00000602327.1_lincRNA|AVIL_ENST00000537081.1_Missense_Mutation_p.V44L	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	51	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGACTGGCCACTCTCCGGGTC	0.577																																						ENST00000537081.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32						c.(130-132)Gtg>Ttg		advillin							62.0	58.0	59.0					12																	58207197		2203	4300	6503	SO:0001583	missense	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58207197C>A	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.151G>T	12.37:g.58207197C>A	ENSP00000257861:p.Val51Leu					AVIL_ENST00000257861.3_Missense_Mutation_p.V51L	p.V44L			O75366	AVIL_HUMAN			3	129	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		51			Core (By similarity).		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	c.130G>T	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	C	8.029	0.761300	0.15914	.	.	ENSG00000135407	ENST00000537081;ENST00000257861;ENST00000549994	T;T;T	0.16743	2.32;2.32;2.32	4.73	2.73	0.32206	Gelsolin domain (1);	1.054110	0.07372	N	0.885912	T	0.17874	0.0429	L	0.41124	1.26	0.22610	N	0.998936	B;B;B	0.19445	0.001;0.001;0.036	B;B;B	0.32211	0.009;0.006;0.142	T	0.38802	-0.9644	10	0.17832	T	0.49	-3.6266	10.7575	0.46245	0.5232:0.4768:0.0:0.0	.	44;51;51	O75366-2;F8VVU1;O75366	.;.;AVIL_HUMAN	L	44;51;51	ENSP00000443207:V44L;ENSP00000257861:V51L;ENSP00000449239:V51L	ENSP00000257861:V51L	V	-	1	0	AVIL	56493464	0.034000	0.19679	0.982000	0.44146	0.542000	0.35054	0.313000	0.19415	1.317000	0.45149	0.655000	0.94253	GTG		0.577	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		48	81	1	0	8.04919e-23	0.014410	9.50068e-23	48	81				
HTR7	3363	broad.mit.edu	37	10	92616929	92616929	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:92616929G>A	ENST00000336152.3	-	1	526	c.500C>T	c.(499-501)aCg>aTg	p.T167M	HTR7_ENST00000371719.2_Missense_Mutation_p.T167M|HTR7_ENST00000371721.3_Missense_Mutation_p.T167M|HTR7_ENST00000277874.6_Missense_Mutation_p.T167M	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	167					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GATCGAGGCCGTGCAGCACAT	0.617																																						ENST00000371721.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(499-501)aCg>aTg		5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						50.0	37.0	42.0					10																	92616929		2203	4300	6503	SO:0001583	missense	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92616929G>A	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.500C>T	10.37:g.92616929G>A	ENSP00000337949:p.Thr167Met					HTR7_ENST00000277874.6_Missense_Mutation_p.T167M|HTR7_ENST00000371719.2_Missense_Mutation_p.T167M|HTR7_ENST00000336152.3_Missense_Mutation_p.T167M	p.T167M			P34969	5HT7R_HUMAN			1	742	-			167					B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	c.500C>T	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103133	0.94245	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.15372	2.43;2.43;2.43;2.43	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55609	0.1931	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70861	-0.4757	10	0.87932	D	0	.	18.2215	0.89903	0.0:0.0:1.0:0.0	.	167;167	P34969;P34969-2	5HT7R_HUMAN;.	M	167	ENSP00000337949:T167M;ENSP00000277874:T167M;ENSP00000360784:T167M;ENSP00000360786:T167M	ENSP00000277874:T167M	T	-	2	0	HTR7	92606909	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.866000	0.99616	2.309000	0.77851	0.563000	0.77884	ACG		0.617	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		3	39	0	0	0	0.004672	0	3	39				
PIDD1	55367	broad.mit.edu	37	11	804239	804239	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:804239C>T	ENST00000347755.5	-	2	291	c.150G>A	c.(148-150)ctG>ctA	p.L50L	PIDD_ENST00000534649.1_5'UTR|PIDD_ENST00000411829.2_Silent_p.L50L	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					ACAGGTGCAGCAGCTGCTGGC	0.657																																						ENST00000347755.5																			0											c.(148-150)ctG>ctA		p53-induced death domain protein							22.0	24.0	24.0					11																	804239		2199	4294	6493	SO:0001819	synonymous_variant	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:804239C>T																												ENST00000347755.5:c.150G>A	11.37:g.804239C>T						PIDD_ENST00000411829.2_Silent_p.L50L|PIDD_ENST00000534649.1_5'UTR	p.L50L	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN			2	291	-			50						Silent	SNP	ENST00000347755.5	37	c.150G>A	CCDS7716.1																																																																																				0.657	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257103.1			10	16	0	0	0	0.003163	0	10	16				
EIF1	10209	broad.mit.edu	37	17	39846195	39846195	+	Splice_Site	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:39846195T>C	ENST00000469257.1	+	2	341		c.e2+2		JUP_ENST00000540235.1_Intron|EIF1_ENST00000310837.4_Intron|EIF1_ENST00000591776.1_Splice_Site			P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1						dosage compensation by inactivation of X chromosome (GO:0009048)|regulation of translational initiation (GO:0006446)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TTTAAGAAAGTAGGTCTTCAG	0.423											OREG0024409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(176;1692 2837 16734 17588)	ENST00000469257.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5						c.e2+2		eukaryotic translation initiation factor 1							69.0	68.0	68.0					17																	39846195		2203	4300	6503	SO:0001630	splice_region_variant	10209				regulation of translational initiation|response to stress	cytoplasm	translation initiation factor activity	g.chr17:39846195T>C	AF083441	CCDS11403.1	17q21.2	2006-02-02			ENSG00000173812	ENSG00000173812			3249	protein-coding gene	gene with protein product						7904817, 10347211	Standard	NM_005801		Approved	EIF-1, ISO1, A121, SUI1, EIF1A	uc002hxj.3	P41567	OTTHUMG00000133492	ENST00000469257.1:c.195+2T>C	17.37:g.39846195T>C			OREG0024409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	EIF1_ENST00000310837.4_Intron|EIF1_ENST00000591776.1_Splice_Site|JUP_ENST00000540235.1_Intron				P41567	EIF1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		2	341	+		Breast(137;0.000307)						Q9UNQ9	Splice_Site	SNP	ENST00000469257.1	37		CCDS11403.1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.192317	0.38707	.	.	ENSG00000173812	ENST00000469257	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4129	0.67128	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF1	37099721	1.000000	0.71417	0.943000	0.38184	0.415000	0.31203	6.054000	0.71096	1.993000	0.58246	0.379000	0.24179	.		0.423	EIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257390.1	NM_005801	Intron	70	81	0	0	0	0.014410	0	70	81				
ZNF484	83744	broad.mit.edu	37	9	95610604	95610604	+	Silent	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:95610604A>G	ENST00000375495.3	-	5	613	c.465T>C	c.(463-465)taT>taC	p.Y155Y	ZNF484_ENST00000395505.2_Silent_p.Y119Y|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Silent_p.Y157Y|ZNF484_ENST00000332591.6_Silent_p.Y119Y	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	155					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						CAATGTCCTTATATTCAAAGA	0.373																																						ENST00000395505.2																			0				NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(355-357)taT>taC		zinc finger protein 484							222.0	215.0	217.0					9																	95610604		2203	4300	6503	SO:0001819	synonymous_variant	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95610604A>G	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.465T>C	9.37:g.95610604A>G						ZNF484_ENST00000395506.3_Silent_p.Y157Y|ZNF484_ENST00000332591.6_Silent_p.Y119Y|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Silent_p.Y155Y	p.Y119Y	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN			3	449	-			155					B1AL89|B4DRI2	Silent	SNP	ENST00000375495.3	37	c.357T>C	CCDS35066.1																																																																																				0.373	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		162	279	0	0	0	0.014410	0	162	279				
ANGEL2	90806	broad.mit.edu	37	1	213178426	213178426	+	Silent	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:213178426A>G	ENST00000366962.3	-	5	1237	c.1083T>C	c.(1081-1083)taT>taC	p.Y361Y	ANGEL2_ENST00000360506.2_Silent_p.Y192Y|ANGEL2_ENST00000473303.1_5'Flank|ANGEL2_ENST00000540642.1_Silent_p.Y235Y|ANGEL2_ENST00000535388.1_Silent_p.Y192Y|ANGEL2_ENST00000544555.1_Silent_p.Y192Y	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	361										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TTATGAAACTATATAGTGGAG	0.408																																						ENST00000366962.3																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24						c.(1081-1083)taT>taC		angel homolog 2 (Drosophila)							69.0	69.0	69.0					1																	213178426		2203	4300	6503	SO:0001819	synonymous_variant	90806							g.chr1:213178426A>G	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.1083T>C	1.37:g.213178426A>G						ANGEL2_ENST00000535388.1_Silent_p.Y192Y|ANGEL2_ENST00000360506.2_Silent_p.Y192Y|ANGEL2_ENST00000540642.1_Silent_p.Y235Y|ANGEL2_ENST00000544555.1_Silent_p.Y192Y	p.Y361Y	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	5	1237	-			361					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Silent	SNP	ENST00000366962.3	37	c.1083T>C	CCDS1512.1																																																																																				0.408	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		58	98	0	0	0	0.014410	0	58	98				
HNRNPU	3192	broad.mit.edu	37	1	245022119	245022119	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:245022119T>C	ENST00000283179.9	-	6	1305	c.1142A>G	c.(1141-1143)tAt>tGt	p.Y381C	HNRNPU_ENST00000444376.2_Missense_Mutation_p.Y362C			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	381	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTTTAGAGAATACCCATAAGA	0.289																																					NSCLC(33;911 1010 3329 23631 49995)	ENST00000444376.2																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1084-1086)tAt>tGt		heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)							94.0	91.0	92.0					1																	245022119		2201	4297	6498	SO:0001583	missense	3192				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	g.chr1:245022119T>C	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1142A>G	1.37:g.245022119T>C	ENSP00000283179:p.Tyr381Cys					HNRNPU_ENST00000283179.9_Missense_Mutation_p.Y381C	p.Y362C	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		6	1319	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		381			B30.2/SPRY.		O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	ENST00000283179.9	37	c.1085A>G	CCDS41479.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.187252	0.78789	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948;ENST00000440865	T;T;T	0.76709	-1.04;-1.04;-1.04	5.79	5.79	0.91817	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.91962	0.7454	H	0.96208	3.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.988;0.997;0.999;0.979	D	0.94362	0.7588	10	0.87932	D	0	-10.4673	16.1169	0.81309	0.0:0.0:0.0:1.0	.	306;362;381;105	B3KX72;Q00839-2;Q00839;Q5RI19	.;.;HNRPU_HUMAN;.	C	362;381;306;158	ENSP00000393151:Y362C;ENSP00000283179:Y381C;ENSP00000410728:Y158C	ENSP00000283179:Y381C	Y	-	2	0	HNRNPU	243088742	1.000000	0.71417	0.996000	0.52242	0.864000	0.49448	6.174000	0.71943	2.205000	0.71048	0.482000	0.46254	TAT		0.289	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		4	94	0	0	0	0.009096	0	4	94				
GRSF1	2926	broad.mit.edu	37	4	71693661	71693661	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:71693661T>G	ENST00000254799.6	-	6	1160	c.1043A>C	c.(1042-1044)aAg>aCg	p.K348T	GRSF1_ENST00000439371.1_Missense_Mutation_p.K186T|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000545193.1_Missense_Mutation_p.K230T|GRSF1_ENST00000502323.1_Missense_Mutation_p.K186T	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	348					anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			AGTTATATACTTAGCAGTAGG	0.373																																						ENST00000254799.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17						c.(1042-1044)aAg>aCg		G-rich RNA sequence binding factor 1							194.0	191.0	192.0					4																	71693661		1860	4096	5956	SO:0001583	missense	2926				mRNA polyadenylation		mRNA binding|nucleotide binding	g.chr4:71693661T>G	BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"""RNA binding motif (RRM) containing"""	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.1043A>C	4.37:g.71693661T>G	ENSP00000254799:p.Lys348Thr					GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Missense_Mutation_p.K186T|GRSF1_ENST00000545193.1_Missense_Mutation_p.K230T|GRSF1_ENST00000439371.1_Missense_Mutation_p.K186T	p.K348T	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	Lung(101;0.235)		6	1160	-		all_hematologic(202;0.21)	348					B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Missense_Mutation	SNP	ENST00000254799.6	37	c.1043A>C	CCDS47069.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.1|25.1	4.598946|4.598946	0.87055|0.87055	.|.	.|.	ENSG00000132463|ENSG00000132463	ENST00000254799;ENST00000439371;ENST00000540657;ENST00000499044;ENST00000502323;ENST00000545193|ENST00000514161	T;T;T;T;T|.	0.19532|.	2.14;2.21;2.14;2.21;2.22|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.510962|.	0.22261|.	N|.	0.062402|.	T|T	0.57475|0.57475	0.2056|0.2056	L|L	0.27053|0.27053	0.805|0.805	0.41257|0.41257	D|D	0.986752|0.986752	D;P|.	0.54601|.	0.967;0.931|.	B;B|.	0.44224|.	0.432;0.444|.	T|T	0.60546|0.60546	-0.7242|-0.7242	10|6	0.14656|0.54805	T|T	0.56|0.06	-11.1592|-11.1592	15.6176|15.6176	0.76780|0.76780	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	261;348|.	B7Z5F9;Q12849|.	.;GRSF1_HUMAN|.	T|R	348;186;280;321;186;230|285	ENSP00000254799:K348T;ENSP00000389219:K186T;ENSP00000427354:K321T;ENSP00000425430:K186T;ENSP00000443380:K230T|.	ENSP00000254799:K348T|ENSP00000427644:S113R	K|S	-|-	2|1	0|0	GRSF1|GRSF1	71912525|71912525	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	2.431000|2.431000	0.44775|0.44775	2.330000|2.330000	0.79161|0.79161	0.477000|0.477000	0.44152|0.44152	AAG|AGT		0.373	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	NM_002092		147	262	0	0	0	0.014410	0	147	262				
TSNAX	7257	broad.mit.edu	37	1	231700333	231700333	+	Silent	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:231700333C>A	ENST00000366639.4	+	6	713	c.555C>A	c.(553-555)gtC>gtA	p.V185V	TSNAX-DISC1_ENST00000602962.1_Intron	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	185	Interaction with C1D.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				TCACACCTGTCGATTACCTTC	0.458																																						ENST00000366639.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(553-555)gtC>gtA		translin-associated factor X							213.0	210.0	211.0					1																	231700333		2203	4300	6503	SO:0001819	synonymous_variant	7257				cell differentiation|multicellular organismal development|spermatogenesis	nucleus|perinuclear region of cytoplasm	protein transporter activity|sequence-specific DNA binding	g.chr1:231700333C>A	X95073	CCDS1596.1	1q42.2	2008-02-05			ENSG00000116918	ENSG00000116918			12380	protein-coding gene	gene with protein product		602964				9013868	Standard	NM_005999		Approved	TRAX	uc001huw.3	Q99598	OTTHUMG00000039486	ENST00000366639.4:c.555C>A	1.37:g.231700333C>A						TRAX_ENST00000602962.1_Intron	p.V185V	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN			6	713	+		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)	185			Interaction with C1D.		B1APC6	Silent	SNP	ENST00000366639.4	37	c.555C>A	CCDS1596.1																																																																																				0.458	TSNAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095267.2	NM_005999		164	282	1	0	1.74763e-85	0.014410	2.22707e-85	164	282				
IRS1	3667	broad.mit.edu	37	2	227662313	227662313	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:227662313C>T	ENST00000305123.5	-	1	2162	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	IRS1_ENST00000498335.1_5'Flank|RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	381	Ser-rich.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		AGGCGAGCAGCGGGAAGCCGG	0.677											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(1141-1143)cGc>cAc		insulin receptor substrate 1							33.0	41.0	38.0					2																	227662313		2197	4292	6489	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662313C>T		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1142G>A	2.37:g.227662313C>T	ENSP00000304895:p.Arg381His		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.R381H	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	2162	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	381			Ser-rich.			Missense_Mutation	SNP	ENST00000305123.5	37	c.1142G>A	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280240	0.23392	.	.	ENSG00000169047	ENST00000305123	T	0.56611	0.45	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000001	T	0.51618	0.1685	N	0.08118	0	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.45190	-0.9278	10	0.06891	T	0.86	-19.8765	19.3349	0.94312	0.0:1.0:0.0:0.0	.	381	P35568	IRS1_HUMAN	H	381	ENSP00000304895:R381H	ENSP00000304895:R381H	R	-	2	0	IRS1	227370557	1.000000	0.71417	0.984000	0.44739	0.924000	0.55760	5.725000	0.68507	2.564000	0.86499	0.462000	0.41574	CGC		0.677	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		4	44	0	0	0	0.009096	0	4	44				
SYCE1	93426	broad.mit.edu	37	10	135370646	135370646	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:135370646A>G	ENST00000343131.5	-	7	493	c.389T>C	c.(388-390)tTg>tCg	p.L130S	SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000368517.3_Missense_Mutation_p.L94S|SYCE1_ENST00000432597.2_Missense_Mutation_p.L94S	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	130					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GCACTCCTGCAACATGGTGTG	0.547																																						ENST00000368517.3																			0				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19						c.(280-282)tTg>tCg		synaptonemal complex central element protein 1							229.0	217.0	221.0					10																	135370646		2203	4300	6503	SO:0001583	missense	93426				cell division	central element		g.chr10:135370646A>G	AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"""cancer/testis antigen 76"""	611486	"""chromosome 10 open reading frame 94"""	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.389T>C	10.37:g.135370646A>G	ENSP00000341282:p.Leu130Ser					SYCE1_ENST00000432597.2_Missense_Mutation_p.L94S|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_Missense_Mutation_p.L130S	p.L94S	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	7	419	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	130					B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP	ENST00000343131.5	37	c.281T>C	CCDS44501.1	.	.	.	.	.	.	.	.	.	.	A	8.244	0.807591	0.16467	.	.	ENSG00000171772	ENST00000303903;ENST00000432597;ENST00000368517;ENST00000343131	T;T;T;T	0.27890	1.64;3.26;3.26;3.26	4.3	4.3	0.51218	.	0.114911	0.37219	N	0.002193	T	0.33760	0.0874	L	0.28274	0.84	0.21652	N	0.99961	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.87578	0.998;0.976;0.965	T	0.14783	-1.0460	10	0.06099	T	0.92	-3.2344	10.1326	0.42687	1.0:0.0:0.0:0.0	.	2;130;94	Q8N0S2-3;Q8N0S2;Q8N0S2-2	.;SYCE1_HUMAN;.	S	130;94;94;130	ENSP00000303978:L130S;ENSP00000411779:L94S;ENSP00000357503:L94S;ENSP00000341282:L130S	ENSP00000303978:L130S	L	-	2	0	SYCE1	135220636	0.373000	0.25073	0.460000	0.27093	0.362000	0.29581	1.915000	0.39976	2.172000	0.68678	0.533000	0.62120	TTG		0.547	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_201564		189	561	0	0	0	0.014410	0	189	561				
BUB1B	701	broad.mit.edu	37	15	40476084	40476084	+	Splice_Site	SNP	G	G	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:40476084G>C	ENST00000287598.6	+	6	946	c.751G>C	c.(751-753)Gct>Cct	p.A251P	BUB1B_ENST00000412359.3_Splice_Site_p.A265P	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	251					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TGCTCTCAAGGGTAAGTTTGT	0.388			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													ENST00000287598.6			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	"""Mis, N, F, S"""	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36						c.e6+1		BUB1 mitotic checkpoint serine/threonine kinase B							72.0	68.0	70.0					15																	40476084		2203	4300	6503	SO:0001630	splice_region_variant	701	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40476084G>C	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.751+1G>C	15.37:g.40476084G>C						BUB1B_ENST00000412359.3_Splice_Site_p.A265_splice	p.A251_splice	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	6	946	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	251					B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Splice_Site	SNP	ENST00000287598.6	37	c.751_splice	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303593	0.40795	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.15603	2.41;2.43	5.31	3.41	0.39046	.	0.512295	0.20336	N	0.094332	T	0.13756	0.0333	L	0.48362	1.52	0.40286	D	0.978453	B;B	0.17038	0.019;0.02	B;B	0.16289	0.015;0.007	T	0.07908	-1.0748	10	0.40728	T	0.16	-2.2377	5.1962	0.15239	0.0738:0.2701:0.5168:0.1393	.	265;251	O60566-3;O60566	.;BUB1B_HUMAN	P	251;265;197	ENSP00000287598:A251P;ENSP00000398470:A265P	ENSP00000287598:A251P	A	+	1	0	BUB1B	38263376	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	1.520000	0.35899	0.612000	0.30071	0.491000	0.48974	GCT		0.388	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4		Missense_Mutation	20	42	0	0	0	0.008871	0	20	42				
TNNT2	7139	broad.mit.edu	37	1	201335996	201335996	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:201335996C>A	ENST00000509001.1	-	7	459	c.173G>T	c.(172-174)gGc>gTc	p.G58V	TNNT2_ENST00000367315.2_Missense_Mutation_p.G58V|TNNT2_ENST00000367322.1_Missense_Mutation_p.G58V|TNNT2_ENST00000360372.4_Missense_Mutation_p.G53V|TNNT2_ENST00000460780.1_5'Flank|TNNT2_ENST00000458432.2_Missense_Mutation_p.G70V|TNNT2_ENST00000367320.2_Missense_Mutation_p.G67V|TNNT2_ENST00000421663.2_Missense_Mutation_p.G60V|TNNT2_ENST00000367318.5_Missense_Mutation_p.G58V|TNNT2_ENST00000367317.4_Missense_Mutation_p.G58V|TNNT2_ENST00000236918.7_Missense_Mutation_p.G63V	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	68					ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						CTCCATTGGGCCATCTGGAGG	0.597																																						ENST00000509001.1																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						c.(172-174)gGc>gTc		troponin T type 2 (cardiac)							89.0	85.0	86.0					1																	201335996		2203	4300	6503	SO:0001583	missense	7139				ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr1:201335996C>A	X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"""troponin T2, cardiac"", ""cardiomyopathy, hypertrophic 2"", ""cardiomyopathy, dilated 1D (autosomal dominant)"""	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.173G>T	1.37:g.201335996C>A	ENSP00000422031:p.Gly58Val					TNNT2_ENST00000360372.4_Missense_Mutation_p.G53V|TNNT2_ENST00000367318.5_Missense_Mutation_p.G58V|TNNT2_ENST00000367320.2_Missense_Mutation_p.G67V|TNNT2_ENST00000367315.2_Missense_Mutation_p.G58V|TNNT2_ENST00000458432.2_Missense_Mutation_p.G70V|TNNT2_ENST00000367322.1_Missense_Mutation_p.G58V|TNNT2_ENST00000421663.2_Missense_Mutation_p.G60V|TNNT2_ENST00000367317.4_Missense_Mutation_p.G58V|TNNT2_ENST00000236918.7_Missense_Mutation_p.G63V	p.G58V	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN			7	459	-			68					A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	Missense_Mutation	SNP	ENST00000509001.1	37	c.173G>T	CCDS30969.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.448174	0.63178	.	.	ENSG00000118194	ENST00000367322;ENST00000367318;ENST00000458432;ENST00000421663;ENST00000236918;ENST00000367317;ENST00000367315;ENST00000360372;ENST00000357848;ENST00000367320;ENST00000509001;ENST00000438742;ENST00000455702;ENST00000422165;ENST00000412633	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99445	-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91	4.67	3.74	0.42951	.	0.488362	0.20948	N	0.082811	D	0.98030	0.9351	N	0.24115	0.695	0.80722	D	1	P;D;P;P;D	0.58268	0.906;0.982;0.94;0.94;0.964	B;P;B;B;P	0.54140	0.346;0.743;0.331;0.331;0.531	D	0.95982	0.8978	10	0.31617	T	0.26	-22.1946	8.0539	0.30593	0.0:0.8891:0.0:0.1109	.	53;67;68;58;68	E7EPW4;P45379-3;P45379;Q9BUF6;P45379-10	.;.;TNNT2_HUMAN;.;.	V	58;58;70;60;63;58;58;53;54;67;58;53;68;63;57	ENSP00000356291:G58V;ENSP00000356287:G58V;ENSP00000387874:G70V;ENSP00000404134:G60V;ENSP00000236918:G63V;ENSP00000356286:G58V;ENSP00000356284:G58V;ENSP00000353535:G53V;ENSP00000356289:G67V;ENSP00000422031:G58V;ENSP00000414036:G53V;ENSP00000402238:G68V;ENSP00000395163:G63V;ENSP00000408731:G57V	ENSP00000236918:G63V	G	-	2	0	TNNT2	199602619	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	1.326000	0.33735	2.296000	0.77279	0.561000	0.74099	GGC		0.597	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360358.1	NM_000364		57	99	1	0	9.72345e-25	0.014410	1.16681e-24	57	99				
RPS19	6223	broad.mit.edu	37	19	42364899	42364899	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:42364899G>T	ENST00000598742.1	+	2	427	c.55G>T	c.(55-57)Gca>Tca	p.A19S	RPS19_ENST00000593863.1_Missense_Mutation_p.A19S|RPS19_ENST00000221975.2_5'UTR	NM_001022.3	NP_001013.1	P39019	RS19_HUMAN	ribosomal protein S19	19			LA -> E (in DBA1).		cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|monocyte chemotaxis (GO:0002548)|mRNA metabolic process (GO:0016071)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleolus organization (GO:0007000)|positive regulation of cellular component movement (GO:0051272)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|protein tetramerization (GO:0051262)|response to extracellular stimulus (GO:0009991)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						CAGAGCTCTGGCAGCCTTCCT	0.557									Diamond-Blackfan Anemia																													ENST00000598742.1																			0				endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(55-57)Gca>Tca		ribosomal protein S19							124.0	125.0	124.0					19																	42364899		2203	4300	6503	SO:0001583	missense	6223	Diamond-Blackfan Anemia	Familial Cancer Database	DBA, Congenital Hypoplastic Anemia, Blackfan-Diamond Anemia, incl.: Aase syndrome	endocrine pancreas development|erythrocyte differentiation|gas transport|positive regulation of cellular component movement|response to extracellular stimulus|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr19:42364899G>T	BC000023	CCDS12588.1	19q13.2	2011-04-05				ENSG00000105372		"""S ribosomal proteins"""	10402	protein-coding gene	gene with protein product	"""Diamond-Blackfan anemia"""	603474				9582194	Standard	NM_001022		Approved	DBA, S19	uc002ort.3	P39019		ENST00000598742.1:c.55G>T	19.37:g.42364899G>T	ENSP00000470972:p.Ala19Ser					RPS19_ENST00000221975.2_5'UTR|RPS19_ENST00000593863.1_Missense_Mutation_p.A19S	p.A19S	NM_001022.3	NP_001013.1	P39019	RS19_HUMAN			2	427	+			19		LA -> E (in DBA1).				Missense_Mutation	SNP	ENST00000598742.1	37	c.55G>T	CCDS12588.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509702	0.85282	.	.	ENSG00000105372	ENST00000221975	.	.	.	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.75079	0.3801	M	0.65320	2	0.80722	D	1	B	0.28998	0.23	P	0.46758	0.526	T	0.74368	-0.3688	9	0.41790	T	0.15	-13.9021	15.585	0.76475	0.0:0.0:1.0:0.0	.	19	P39019	RS19_HUMAN	S	19	.	ENSP00000221975:A19S	A	+	1	0	RPS19	47056739	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.334000	0.59291	2.476000	0.83614	0.655000	0.94253	GCA		0.557	RPS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463049.1	NM_001022		70	176	1	0	6.86016e-32	0.014410	8.37172e-32	70	176				
UBR2	23304	broad.mit.edu	37	6	42541500	42541500	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:42541500G>A	ENST00000372899.1	+	2	365	c.107G>A	c.(106-108)aGa>aAa	p.R36K	UBR2_ENST00000372901.1_Missense_Mutation_p.R36K|UBR2_ENST00000372903.2_Missense_Mutation_p.R36K	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	36					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GACCTCACTAGAGAAGTGTAC	0.403																																						ENST00000372899.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(106-108)aGa>aAa		ubiquitin protein ligase E3 component n-recognin 2							87.0	88.0	88.0					6																	42541500		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42541500G>A	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.107G>A	6.37:g.42541500G>A	ENSP00000361990:p.Arg36Lys					UBR2_ENST00000372903.2_Missense_Mutation_p.R36K|UBR2_ENST00000372901.1_Missense_Mutation_p.R36K	p.R36K	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		2	365	+	Colorectal(47;0.196)		36					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.107G>A	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	7.490	0.650466	0.14516	.	.	ENSG00000024048	ENST00000372903;ENST00000372899;ENST00000372901	T;T;T	0.70986	-0.53;0.47;0.47	5.58	3.8	0.43715	.	0.160180	0.56097	D	0.000030	T	0.23410	0.0566	N	0.14661	0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.29731	-1.0002	10	0.05351	T	0.99	-12.9543	6.9564	0.24574	0.3809:0.0:0.6191:0.0	.	36;36	Q8IWV8;Q8IWV8-2	UBR2_HUMAN;.	K	36	ENSP00000361994:R36K;ENSP00000361990:R36K;ENSP00000361992:R36K	ENSP00000361990:R36K	R	+	2	0	UBR2	42649478	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.504000	0.53347	0.819000	0.34492	0.655000	0.94253	AGA		0.403	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		476	300	0	0	0	0.014410	0	476	300				
DGCR14	8220	broad.mit.edu	37	22	19127229	19127229	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:19127229T>C	ENST00000252137.6	-	5	627	c.584A>G	c.(583-585)aAt>aGt	p.N195S		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	195					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GAGTTCGAGATTATCTTTCTG	0.562																																						ENST00000252137.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16						c.(583-585)aAt>aGt		DiGeorge syndrome critical region gene 14							152.0	140.0	144.0					22																	19127229		2203	4300	6503	SO:0001583	missense	8220				nervous system development	catalytic step 2 spliceosome		g.chr22:19127229T>C	L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.584A>G	22.37:g.19127229T>C	ENSP00000252137:p.Asn195Ser						p.N195S	NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN			5	627	-	Colorectal(54;0.0993)		195					Q49AH7|Q9BTZ4	Missense_Mutation	SNP	ENST00000252137.6	37	c.584A>G	CCDS13756.1	.	.	.	.	.	.	.	.	.	.	T	2.136	-0.397841	0.04865	.	.	ENSG00000100056	ENST00000252137	T	0.41400	1.0	4.47	2.31	0.28768	.	0.046498	0.85682	N	0.000000	T	0.25717	0.0626	L	0.34521	1.04	0.53688	D	0.999971	B	0.06786	0.001	B	0.09377	0.004	T	0.08351	-1.0726	10	0.08599	T	0.76	-7.6761	8.6123	0.33811	0.0:0.1637:0.0:0.8363	.	195	Q96DF8	DGC14_HUMAN	S	195	ENSP00000252137:N195S	ENSP00000252137:N195S	N	-	2	0	DGCR14	17507229	0.998000	0.40836	0.625000	0.29200	0.723000	0.41478	2.015000	0.40961	0.244000	0.21351	0.383000	0.25322	AAT		0.562	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2			5	185	0	0	0	0.001168	0	5	185				
AHNAK	79026	broad.mit.edu	37	11	62295549	62295549	+	Missense_Mutation	SNP	C	C	T	rs1298288	byFrequency	TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:62295549C>T	ENST00000378024.4	-	5	6614	c.6340G>A	c.(6340-6342)Gcc>Acc	p.A2114T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2114			A -> T (in dbSNP:rs1298288).		protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCTTGGGGGCCTTGAAGTGC	0.507																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(6340-6342)Gcc>Acc		AHNAK nucleoprotein							189.0	200.0	196.0					11																	62295549		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62295549C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6340G>A	11.37:g.62295549C>T	ENSP00000367263:p.Ala2114Thr					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.A2114T	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	6614	-		Melanoma(852;0.155)	2114		A -> T (in dbSNP:rs1298288).			A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.6340G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	0.044	-1.273123	0.01421	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.00912	5.55	3.66	-5.3	0.02738	.	.	.	.	.	T	0.01287	0.0042	L	0.48986	1.54	0.09310	N	1	B	0.16603	0.018	B	0.18871	0.023	T	0.22312	-1.0220	9	0.46703	T	0.11	.	14.1474	0.65360	0.0:0.6689:0.0:0.3311	rs1298288	2114	Q09666	AHNK_HUMAN	T	203;2114	ENSP00000367263:A2114T	ENSP00000244934:A203T	A	-	1	0	AHNAK	62052125	0.000000	0.05858	0.032000	0.17829	0.480000	0.33159	-3.861000	0.00348	-1.808000	0.01234	-1.902000	0.00527	GCC		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		6	530	0	0	0	0.001168	0	6	530				
KLF13	51621	broad.mit.edu	37	15	31664225	31664225	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:31664225T>C	ENST00000307145.3	+	2	948	c.590T>C	c.(589-591)tTc>tCc	p.F197S	KLF13_ENST00000560473.1_Missense_Mutation_p.F9S	NM_015995.2	NP_057079.2	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13	197					negative regulation of cell proliferation (GO:0008285)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)	2		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)		GAGAGGCCCTTCGCCTGCAGC	0.662																																						ENST00000307145.3																			0				NS(1)|breast(1)	2						c.(589-591)tTc>tCc		Kruppel-like factor 13							19.0	18.0	18.0					15																	31664225		2200	4296	6496	SO:0001583	missense	51621				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr15:31664225T>C	AF132599	CCDS10025.1	15q13.3	2013-01-08			ENSG00000169926	ENSG00000169926		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	13672	protein-coding gene	gene with protein product		605328				10415854, 10023774	Standard	NM_015995		Approved	RFLAT-1, BTEB3, NSLP1, FKLF-2	uc001zfo.3	Q9Y2Y9	OTTHUMG00000172224	ENST00000307145.3:c.590T>C	15.37:g.31664225T>C	ENSP00000302456:p.Phe197Ser					KLF13_ENST00000560473.1_Missense_Mutation_p.F9S	p.F197S	NM_015995.2	NP_057079.2	Q9Y2Y9	KLF13_HUMAN		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)	2	948	+		all_lung(180;3.71e-11)	197					Q9Y356	Missense_Mutation	SNP	ENST00000307145.3	37	c.590T>C	CCDS10025.1	.	.	.	.	.	.	.	.	.	.	T	30	5.055255	0.93793	.	.	ENSG00000169926	ENST00000307145	T	0.24908	1.83	5.07	5.07	0.68467	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.54759	0.1878	M	0.82716	2.605	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	T	0.62426	-0.6857	10	0.87932	D	0	.	15.116	0.72404	0.0:0.0:0.0:1.0	.	197	Q9Y2Y9	KLF13_HUMAN	S	197	ENSP00000302456:F197S	ENSP00000302456:F197S	F	+	2	0	KLF13	29451517	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.540000	0.82074	2.036000	0.60181	0.533000	0.62120	TTC		0.662	KLF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251381.1	NM_015995		4	11	0	0	0	0.009096	0	4	11				
LRIG3	121227	broad.mit.edu	37	12	59284527	59284527	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:59284527C>G	ENST00000320743.3	-	4	721	c.435G>C	c.(433-435)caG>caC	p.Q145H	LRIG3_ENST00000379141.4_Missense_Mutation_p.Q85H	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	145					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTTCAAGGGACTGAAACTCTT	0.388			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(433-435)caG>caC		leucine-rich repeats and immunoglobulin-like domains 3							89.0	88.0	88.0					12																	59284527		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59284527C>G	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.435G>C	12.37:g.59284527C>G	ENSP00000326759:p.Gln145His					LRIG3_ENST00000379141.4_Missense_Mutation_p.Q85H	p.Q145H	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		4	721	-			145					Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.435G>C	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900963	0.33535	.	.	ENSG00000139263	ENST00000379141;ENST00000320743;ENST00000552267	T;T;T	0.10099	2.91;2.91;2.91	5.87	-10.7	0.00240	.	0.000000	0.34932	N	0.003566	T	0.11153	0.0272	L	0.48935	1.535	0.25947	N	0.982799	B;D	0.54397	0.014;0.966	B;P	0.55161	0.038;0.77	T	0.06625	-1.0816	9	.	.	.	.	8.9497	0.35781	0.1688:0.2603:0.0:0.5709	.	85;145	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	H	85;145;52	ENSP00000368436:Q85H;ENSP00000326759:Q145H;ENSP00000449109:Q52H	.	Q	-	3	2	LRIG3	57570794	0.000000	0.05858	0.276000	0.24689	0.989000	0.77384	-2.932000	0.00688	-2.071000	0.00880	-0.290000	0.09829	CAG		0.388	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		13	128	0	0	0	0.013537	0	13	128				
TIPIN	54962	broad.mit.edu	37	15	66641437	66641437	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:66641437C>G	ENST00000261881.4	-	6	521	c.436G>C	c.(436-438)Gat>Cat	p.D146H	SCARNA14_ENST00000516903.1_RNA|Y_RNA_ENST00000411339.1_RNA|TIPIN_ENST00000367709.4_Missense_Mutation_p.D45H	NM_017858.2	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	146					cell cycle phase transition (GO:0044770)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|regulation of nuclear cell cycle DNA replication (GO:0033262)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						ATAGGGAGATCAAGTCGAATT	0.294																																						ENST00000261881.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						c.(436-438)Gat>Cat		TIMELESS interacting protein							62.0	65.0	64.0					15																	66641437		2201	4299	6500	SO:0001583	missense	54962				cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding	g.chr15:66641437C>G	BK001386	CCDS10215.1	15q22.31	2012-03-02	2006-08-08		ENSG00000075131	ENSG00000075131			30750	protein-coding gene	gene with protein product	"""CSM3 homolog (S. cerevisiae)"""	610716				12875843, 17102137	Standard	NM_017858		Approved	FLJ20516	uc002apr.2	Q9BVW5	OTTHUMG00000133188	ENST00000261881.4:c.436G>C	15.37:g.66641437C>G	ENSP00000261881:p.Asp146His					TIPIN_ENST00000367709.4_Missense_Mutation_p.D45H	p.D146H	NM_017858.2	NP_060328.2	Q9BVW5	TIPIN_HUMAN			6	521	-			146					B2CW64|Q9NWZ6	Missense_Mutation	SNP	ENST00000261881.4	37	c.436G>C	CCDS10215.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209300	0.58343	.	.	ENSG00000075131	ENST00000367709;ENST00000261881	T;T	0.47177	0.85;0.85	5.11	5.11	0.69529	Replication fork protection component Swi3 (2);	0.000000	0.85682	D	0.000000	T	0.45975	0.1369	L	0.37561	1.115	0.80722	D	1	B	0.33477	0.413	B	0.38616	0.277	T	0.50303	-0.8844	10	0.72032	D	0.01	-36.7419	17.4806	0.87672	0.0:1.0:0.0:0.0	.	146	Q9BVW5	TIPIN_HUMAN	H	45;146	ENSP00000356682:D45H;ENSP00000261881:D146H	ENSP00000261881:D146H	D	-	1	0	TIPIN	64428491	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.760000	0.74939	2.539000	0.85634	0.555000	0.69702	GAT		0.294	TIPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256897.2	NM_017858		4	51	0	0	0	0.009096	0	4	51				
FAM9B	171483	broad.mit.edu	37	X	9000465	9000465	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:9000465G>A	ENST00000327220.5	-	3	430	c.66C>T	c.(64-66)aaC>aaT	p.N22N	FAM9B_ENST00000362066.3_Silent_p.N67N|FAM9B_ENST00000428477.1_Silent_p.N22N			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	22						nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				CTGTAAAACGGTTTCTTTCCT	0.398																																						ENST00000362066.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						c.(199-201)aaC>aaT		family with sequence similarity 9, member B							238.0	196.0	210.0					X																	9000465		2203	4300	6503	SO:0001819	synonymous_variant	171483					nucleus		g.chrX:9000465G>A		CCDS14132.1	Xp22.31	2014-02-17			ENSG00000177138	ENSG00000177138			18404	protein-coding gene	gene with protein product	"""testis expressed 39B"""	300478				12213195, 21085121, 21998597, 22936694	Standard	XM_005274456		Approved	TEX39B	uc011mhu.2	Q8IZU0	OTTHUMG00000021114	ENST00000327220.5:c.66C>T	X.37:g.9000465G>A						FAM9B_ENST00000428477.1_Silent_p.N22N|FAM9B_ENST00000327220.5_Silent_p.N22N	p.N67N			Q8IZU0	FAM9B_HUMAN			2	389	-		Hepatocellular(5;0.219)	22					Q0IJ68|Q8N7Z8	Silent	SNP	ENST00000327220.5	37	c.201C>T	CCDS14132.1																																																																																				0.398	FAM9B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055702.2	NM_205849		5	251	0	0	0	0.001168	0	5	251				
GPR179	440435	broad.mit.edu	37	17	36484110	36484110	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:36484110G>T	ENST00000342292.4	-	11	5362	c.5342C>A	c.(5341-5343)gCt>gAt	p.A1781D	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1781					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGGTCCATCAGCATCTAGAGT	0.572																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(5341-5343)gCt>gAt		G protein-coupled receptor 179							79.0	76.0	77.0					17																	36484110		1932	4149	6081	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36484110G>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5342C>A	17.37:g.36484110G>T	ENSP00000345060:p.Ala1781Asp					GPR179_ENST00000584976.1_Intron	p.A1781D	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	5362	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1781						Missense_Mutation	SNP	ENST00000342292.4	37	c.5342C>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.836390	0.32421	.	.	ENSG00000188888	ENST00000342292	T	0.52983	0.64	4.94	3.95	0.45737	.	0.584232	0.14408	N	0.321438	T	0.31702	0.0805	N	0.22421	0.69	0.09310	N	1	P	0.34462	0.454	B	0.24394	0.053	T	0.16188	-1.0411	10	0.56958	D	0.05	-0.4979	12.3923	0.55366	0.0:0.1699:0.8301:0.0	.	1781	Q6PRD1	GP179_HUMAN	D	1781	ENSP00000345060:A1781D	ENSP00000345060:A1781D	A	-	2	0	GPR179	33737636	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	0.802000	0.27069	1.256000	0.44068	0.655000	0.94253	GCT		0.572	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			126	152	1	0	6.9661e-66	0.014410	8.79929e-66	126	152				
TDRD7	23424	broad.mit.edu	37	9	100249509	100249509	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:100249509G>A	ENST00000355295.4	+	16	3266	c.2971G>A	c.(2971-2973)Gag>Aag	p.E991K	TDRD7_ENST00000540902.1_Missense_Mutation_p.E311K|TDRD7_ENST00000422139.2_Missense_Mutation_p.E917K	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	991	Interacts with CABLES1. {ECO:0000250}.|Interacts with CDK17. {ECO:0000250}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ATCTGTGTATGAGCTGGATTA	0.418																																						ENST00000355295.4																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2971-2973)Gag>Aag		tudor domain containing 7							138.0	132.0	134.0					9																	100249509		2203	4300	6503	SO:0001583	missense	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100249509G>A	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.2971G>A	9.37:g.100249509G>A	ENSP00000347444:p.Glu991Lys					TDRD7_ENST00000540902.1_Missense_Mutation_p.E311K|TDRD7_ENST00000422139.2_Missense_Mutation_p.E917K	p.E991K	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN			16	3266	+		Acute lymphoblastic leukemia(62;0.158)	991			Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity).		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	ENST00000355295.4	37	c.2971G>A	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	G	35	5.421740	0.96111	.	.	ENSG00000196116	ENST00000355295;ENST00000422139;ENST00000540902	T;T;T	0.09350	2.99;2.99;2.99	5.75	5.75	0.90469	Maternal tudor protein (1);	0.045522	0.85682	D	0.000000	T	0.29288	0.0729	L	0.57536	1.79	0.54753	D	0.999984	D;D	0.71674	0.965;0.998	P;D	0.67103	0.814;0.949	T	0.00088	-1.2090	10	0.29301	T	0.29	-32.4999	18.8901	0.92397	0.0:0.0:1.0:0.0	.	311;991	Q8NHU6-3;Q8NHU6	.;TDRD7_HUMAN	K	991;917;311	ENSP00000347444:E991K;ENSP00000413608:E917K;ENSP00000440717:E311K	ENSP00000347444:E991K	E	+	1	0	TDRD7	99289330	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	GAG		0.418	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		5	219	0	0	0	0.000602	0	5	219				
CACNA1G	8913	broad.mit.edu	37	17	48677037	48677037	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:48677037G>T	ENST00000359106.5	+	17	3507	c.3507G>T	c.(3505-3507)aaG>aaT	p.K1169N	CACNA1G_ENST00000505165.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.K1146N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.K1146N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.K1146N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.K1146N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000352832.5_Missense_Mutation_p.K1146N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.K1169N	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1169					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGAGGCCAAGAGTTCCTTTG	0.642																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(3436-3438)aaG>aaT		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						30.0	39.0	36.0					17																	48677037		2088	4209	6297	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48677037G>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.3507G>T	17.37:g.48677037G>T	ENSP00000352011:p.Lys1169Asn					CACNA1G_ENST00000510115.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.K1146N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.K1169N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.K1146N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.K1146N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.K1146N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.K1169N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.K1169N	p.K1146N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		16	3810	+	Breast(11;6.7e-17)		1169					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.3438G>T	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	16.05	3.013533	0.54468	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97041	-4.09;-4.09;-4.22;-4.04;-4.08;-4.09;-4.11;-4.17;-4.16;-4.16;-4.18;-4.04;-4.06;-4.12;-4.06;-4.03;-4.1;-4.05;-4.04;-4.1;-4.09;-4.06;-4.1;-4.04;-4.1;-4.11	4.47	3.42	0.39159	.	0.438355	0.22661	N	0.057200	D	0.96150	0.8745	L	0.29908	0.895	0.38270	D	0.942113	D;P;P;D;D;D;D;D;D;P;D;P;P;D;D;B;P;D;D;B;D;P;D;B;P;D	0.67145	0.994;0.645;0.893;0.991;0.992;0.995;0.995;0.986;0.995;0.61;0.973;0.758;0.645;0.973;0.996;0.243;0.949;0.996;0.974;0.354;0.993;0.645;0.992;0.389;0.808;0.97	D;B;B;D;P;P;D;P;D;B;P;P;B;P;D;B;P;D;P;B;D;P;P;B;B;P	0.79108	0.985;0.368;0.427;0.992;0.765;0.882;0.989;0.765;0.989;0.277;0.585;0.572;0.368;0.585;0.918;0.065;0.694;0.925;0.722;0.101;0.977;0.468;0.711;0.147;0.242;0.839	D	0.94970	0.8116	10	0.52906	T	0.07	.	7.0814	0.25234	0.2152:0.0:0.7848:0.0	.	1146;1169;1169;1169;1169;1169;1169;1169;1169;1169;1169;1146;1169;1169;1169;1169;1169;1146;1169;1146;1146;1146;1146;1169;1146;1169	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	N	1146;1146;1169;1146;1146;1146;1169;1169;1146;1169;1169;1169;1169;1169;1169;1146;1169;1169;1169;1169;1146;1169;1169;1169;1169;1169	ENSP00000353990:K1146N;ENSP00000339302:K1146N;ENSP00000392390:K1169N;ENSP00000347078:K1146N;ENSP00000409759:K1146N;ENSP00000425522:K1146N;ENSP00000426261:K1169N;ENSP00000425451:K1169N;ENSP00000422407:K1146N;ENSP00000426814:K1169N;ENSP00000427238:K1169N;ENSP00000423112:K1169N;ENSP00000420918:K1169N;ENSP00000426172:K1169N;ENSP00000423045:K1169N;ENSP00000427173:K1146N;ENSP00000426098:K1169N;ENSP00000425698:K1169N;ENSP00000426232:K1169N;ENSP00000423317:K1169N;ENSP00000350979:K1146N;ENSP00000352011:K1169N;ENSP00000414388:K1169N;ENSP00000423155:K1169N;ENSP00000422268:K1169N;ENSP00000421518:K1169N	ENSP00000339302:K1146N	K	+	3	2	CACNA1G	46032036	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	2.152000	0.42272	2.322000	0.78497	0.561000	0.74099	AAG		0.642	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		9	38	1	0	0.000442599	0.006214	0.000461843	9	38				
RORA	6095	broad.mit.edu	37	15	60806849	60806849	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:60806849T>A	ENST00000335670.6	-	4	490	c.390A>T	c.(388-390)ttA>ttT	p.L130F	RORA_ENST00000449337.2_Missense_Mutation_p.L75F|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000560004.1_5'UTR|RP11-219B17.1_ENST00000559902.1_RNA|RORA_ENST00000261523.5_Missense_Mutation_p.L163F|RORA_ENST00000309157.4_Missense_Mutation_p.L155F|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000558235.1_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	130					angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GGCATTTCTGTAATCGACAGT	0.498																																						ENST00000335670.6																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(388-390)ttA>ttT		RAR-related orphan receptor A							238.0	211.0	221.0					15																	60806849		2203	4300	6503	SO:0001583	missense	6095				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr15:60806849T>A	U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"""Nuclear hormone receptors"""	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.390A>T	15.37:g.60806849T>A	ENSP00000335087:p.Leu130Phe					RP11-219B17.1_ENST00000501579.2_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.L75F|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000309157.4_Missense_Mutation_p.L155F|RORA_ENST00000261523.5_Missense_Mutation_p.L163F|RORA_ENST00000560004.1_5'UTR|RP11-219B17.1_ENST00000559902.1_RNA|RP11-219B17.1_ENST00000558235.1_RNA	p.L130F	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN			4	490	-			163					P35397|P35399|P45445|Q495X4|Q96H83	Missense_Mutation	SNP	ENST00000335670.6	37	c.390A>T	CCDS10177.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.478147	0.84747	.	.	ENSG00000069667	ENST00000335670;ENST00000449337;ENST00000309157;ENST00000261523	D;D;D;D	0.97688	-4.49;-4.49;-4.49;-4.49	6.17	-0.878	0.10617	Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.95198	0.8443	N	0.12422	0.21	0.80722	D	1	D;D;D;D	0.89917	0.999;0.993;1.0;1.0	D;P;D;D	0.97110	0.992;0.908;1.0;1.0	D	0.90449	0.4437	10	0.21014	T	0.42	.	7.1061	0.25364	0.0:0.4047:0.1232:0.472	.	130;155;163;75	P35398-2;P35398-3;P35398;P35398-4	.;.;RORA_HUMAN;.	F	130;75;155;163	ENSP00000335087:L130F;ENSP00000402971:L75F;ENSP00000309753:L155F;ENSP00000261523:L163F	ENSP00000261523:L163F	L	-	3	2	RORA	58594141	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	0.978000	0.29488	-0.083000	0.12618	0.533000	0.62120	TTA		0.498	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2			80	127	0	0	0	0.014410	0	80	127				
WBP11	51729	broad.mit.edu	37	12	14947533	14947533	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:14947533C>G	ENST00000261167.2	-	7	892	c.659G>C	c.(658-660)gGt>gCt	p.G220A		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	220	Interaction with PP1. {ECO:0000250}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						TAGGGCAAAACCCACTTTACG	0.502																																						ENST00000261167.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						c.(658-660)gGt>gCt		WW domain binding protein 11							184.0	191.0	189.0					12																	14947533		2203	4300	6503	SO:0001583	missense	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14947533C>G	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.659G>C	12.37:g.14947533C>G	ENSP00000261167:p.Gly220Ala					WBP11_ENST00000537574.1_Missense_Mutation_p.G220A	p.G220A	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN			7	892	-			220			Interaction with PP1 (By similarity).		Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	c.659G>C	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723796	0.48728	.	.	ENSG00000084463	ENST00000261167;ENST00000537574	.	.	.	4.36	4.36	0.52297	.	0.000000	0.64402	D	0.000006	T	0.58892	0.2154	M	0.66939	2.045	0.44018	D	0.996734	B	0.27068	0.167	B	0.13407	0.009	T	0.61098	-0.7131	9	0.44086	T	0.13	-7.329	14.7645	0.69629	0.0:1.0:0.0:0.0	.	220	Q9Y2W2	WBP11_HUMAN	A	220	.	ENSP00000261167:G220A	G	-	2	0	WBP11	14838800	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.985000	0.56930	2.437000	0.82529	0.655000	0.94253	GGT		0.502	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		145	302	0	0	0	0.014410	0	145	302				
SH2D2A	9047	broad.mit.edu	37	1	156779265	156779265	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:156779265C>G	ENST00000368199.3	-	7	885	c.732G>C	c.(730-732)agG>agC	p.R244S	SH2D2A_ENST00000368198.3_Missense_Mutation_p.R226S|SH2D2A_ENST00000392306.2_Missense_Mutation_p.R254S	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	244	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGGCTTGGGCCTGAGCAGCT	0.657																																						ENST00000392306.2																			0				endometrium(1)|large_intestine(2)|lung(15)	18						c.(760-762)agG>agC		SH2 domain containing 2A							46.0	53.0	51.0					1																	156779265		2203	4300	6503	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156779265C>G	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.732G>C	1.37:g.156779265C>G	ENSP00000357182:p.Arg244Ser					SH2D2A_ENST00000368198.3_Missense_Mutation_p.R226S|SH2D2A_ENST00000368199.3_Missense_Mutation_p.R244S	p.R254S	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN			7	901	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		244			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.762G>C	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656080	0.47467	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.62364	0.07;0.03;0.51	3.92	2.64	0.31445	.	1.165750	0.06025	N	0.652101	T	0.49626	0.1568	L	0.32530	0.975	0.25562	N	0.986985	D;D;D	0.76494	0.999;0.997;0.997	D;P;P	0.67382	0.951;0.895;0.895	T	0.36286	-0.9754	10	0.30854	T	0.27	-14.9673	5.4464	0.16537	0.0:0.6663:0.0:0.3337	.	254;226;244	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	S	244;226;254	ENSP00000357182:R244S;ENSP00000357181:R226S;ENSP00000376123:R254S	ENSP00000357181:R226S	R	-	3	2	SH2D2A	155045889	0.935000	0.31712	0.998000	0.56505	0.529000	0.34654	-0.017000	0.12590	0.642000	0.30620	0.555000	0.69702	AGG		0.657	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		6	129	0	0	0	0.001984	0	6	129				
PSD3	23362	broad.mit.edu	37	8	18725291	18725291	+	Silent	SNP	T	T	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:18725291T>G	ENST00000327040.8	-	4	1629	c.1527A>C	c.(1525-1527)gcA>gcC	p.A509A	PSD3_ENST00000523619.1_Silent_p.A444A|PSD3_ENST00000440756.2_Silent_p.A509A	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	509					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TGCCACCATCTGCAGACACAC	0.522																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1525-1527)gcA>gcC		pleckstrin and Sec7 domain containing 3							189.0	188.0	188.0					8																	18725291		2135	4246	6381	SO:0001819	synonymous_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18725291T>G	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.1527A>C	8.37:g.18725291T>G						PSD3_ENST00000327040.8_Silent_p.A509A|PSD3_ENST00000523619.1_Silent_p.A444A	p.A509A			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	4	1629	-			509					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Silent	SNP	ENST00000327040.8	37	c.1527A>C	CCDS43720.1																																																																																				0.522	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		125	194	0	0	0	0.014410	0	125	194				
TMC5	79838	broad.mit.edu	37	16	19488785	19488785	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:19488785T>A	ENST00000396229.2	+	13	2863	c.2114T>A	c.(2113-2115)aTc>aAc	p.I705N	TMC5_ENST00000541464.1_Missense_Mutation_p.I653N|TMC5_ENST00000561503.1_Missense_Mutation_p.I346N|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000542583.2_Missense_Mutation_p.I705N|TMC5_ENST00000564959.1_Missense_Mutation_p.I388N|TMC5_ENST00000381414.4_Missense_Mutation_p.I705N|TMC5_ENST00000219821.5_Missense_Mutation_p.I459N	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	705					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AAAATATCAATCATTGGCATT	0.393																																						ENST00000396229.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(2113-2115)aTc>aAc		transmembrane channel-like 5							237.0	220.0	226.0					16																	19488785		2197	4300	6497	SO:0001583	missense	79838					integral to membrane		g.chr16:19488785T>A	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2114T>A	16.37:g.19488785T>A	ENSP00000379531:p.Ile705Asn					TMC5_ENST00000564959.1_Missense_Mutation_p.I388N|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000561503.1_Missense_Mutation_p.I346N|TMC5_ENST00000541464.1_Missense_Mutation_p.I653N|TMC5_ENST00000542583.2_Missense_Mutation_p.I705N|TMC5_ENST00000381414.4_Missense_Mutation_p.I705N|TMC5_ENST00000219821.5_Missense_Mutation_p.I459N	p.I705N	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN			13	2863	+			705					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.2114T>A	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	T	14.52	2.561261	0.45590	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.66815	-0.23;0.89;0.89;0.89;0.89	4.33	4.33	0.51752	.	0.116737	0.56097	D	0.000024	T	0.78528	0.4297	M	0.80183	2.485	0.35988	D	0.836502	D;P;D;D;D;D	0.71674	0.998;0.568;0.993;0.987;0.996;0.998	D;B;D;P;D;D	0.68943	0.961;0.265;0.943;0.878;0.914;0.961	T	0.80103	-0.1522	10	0.11182	T	0.66	-18.1631	13.4263	0.61028	0.0:0.0:0.0:1.0	.	653;388;459;459;705;705	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;.;TMC5_HUMAN;.	N	653;705;705;705;459;388	ENSP00000441227:I653N;ENSP00000370822:I705N;ENSP00000379531:I705N;ENSP00000446274:I705N;ENSP00000219821:I459N	ENSP00000219821:I459N	I	+	2	0	TMC5	19396286	0.991000	0.36638	0.826000	0.32828	0.104000	0.19210	6.226000	0.72277	1.714000	0.51371	0.533000	0.62120	ATC		0.393	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		99	175	0	0	0	0.014410	0	99	175				
TTN	7273	broad.mit.edu	37	2	179584535	179584535	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:179584535G>A	ENST00000591111.1	-	80	22957	c.22733C>T	c.(22732-22734)cCc>cTc	p.P7578L	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P6651L|TTN_ENST00000589042.1_Missense_Mutation_p.P7895L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	13132	Ig-like 58.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGGGTTCGGGCTTCTCTAT	0.398																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(23683-23685)cCc>cTc		titin							97.0	86.0	89.0					2																	179584535		1859	4099	5958	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179584535G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22733C>T	2.37:g.179584535G>A	ENSP00000465570:p.Pro7578Leu					TTN_ENST00000591111.1_Missense_Mutation_p.P7578L|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P6651L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	p.P7895L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		82	23908	-			7578			Ig-like 61.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.23684C>T		.	.	.	.	.	.	.	.	.	.	G	12.29	1.893462	0.33442	.	.	ENSG00000155657	ENST00000342992	T	0.53857	0.6	6.08	6.08	0.98989	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53706	0.1813	L	0.49350	1.555	0.80722	D	1	B	0.18166	0.026	B	0.19946	0.027	T	0.48917	-0.8992	9	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	7578	Q8WZ42	TITIN_HUMAN	L	6651	ENSP00000343764:P6651L	ENSP00000343764:P6651L	P	-	2	0	TTN	179292780	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.062000	0.89475	2.894000	0.99253	0.655000	0.94253	CCC		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		42	93	0	0	0	0.009718	0	42	93				
GRPR	2925	broad.mit.edu	37	X	16168712	16168712	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:16168712T>A	ENST00000380289.2	+	2	1096	c.698T>A	c.(697-699)aTt>aAt	p.I233N	RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA|RP11-431J24.2_ENST00000422438.1_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	233					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TACTACTTCATTGCTAAAAAT	0.428																																						ENST00000380289.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25						c.(697-699)aTt>aAt		gastrin-releasing peptide receptor							130.0	109.0	116.0					X																	16168712		2203	4300	6503	SO:0001583	missense	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16168712T>A		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.698T>A	X.37:g.16168712T>A	ENSP00000369643:p.Ile233Asn						p.I233N	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN			2	1096	+	Hepatocellular(33;0.183)		233					B2R910	Missense_Mutation	SNP	ENST00000380289.2	37	c.698T>A	CCDS14174.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.347457	0.82022	.	.	ENSG00000126010	ENST00000380289;ENST00000535371	T	0.58060	0.36	5.63	5.63	0.86233	GPCR, rhodopsin-like superfamily (1);	0.049654	0.85682	D	0.000000	T	0.79799	0.4508	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85534	0.1211	10	0.87932	D	0	-12.0435	13.8962	0.63773	0.0:0.0:0.0:1.0	.	233	P30550	GRPR_HUMAN	N	233;22	ENSP00000369643:I233N	ENSP00000369643:I233N	I	+	2	0	GRPR	16078633	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	1.878000	0.54408	0.486000	0.48141	ATT		0.428	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		4	108	0	0	0	0.009096	0	4	108				
MYCBP2	23077	broad.mit.edu	37	13	77798620	77798620	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:77798620G>T	ENST00000544440.2	-	20	2808	c.2791C>A	c.(2791-2793)Cat>Aat	p.H931N	MYCBP2_ENST00000357337.6_Missense_Mutation_p.H931N|MYCBP2_ENST00000407578.2_Missense_Mutation_p.H969N|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGCTGCCCATGCTGCCCATAA	0.348																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(2905-2907)Cat>Aat		MYC binding protein 2, E3 ubiquitin protein ligase							118.0	112.0	114.0					13																	77798620		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77798620G>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.2791C>A	13.37:g.77798620G>T	ENSP00000444596:p.His931Asn					MYCBP2_ENST00000544440.2_Missense_Mutation_p.H931N|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.H931N	p.H969N	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	20	3171	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	931						Missense_Mutation	SNP	ENST00000544440.2	37	c.2905C>A		.	.	.	.	.	.	.	.	.	.	G	25.0	4.589402	0.86851	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	D;D;D	0.84730	-1.89;-1.89;-1.89	5.61	5.61	0.85477	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.88716	0.6512	L	0.31664	0.95	0.80722	D	1	P	0.49559	0.925	D	0.67900	0.954	D	0.89201	0.3557	10	0.59425	D	0.04	.	19.6419	0.95762	0.0:0.0:1.0:0.0	.	931	O75592	MYCB2_HUMAN	N	931;969;931	ENSP00000349892:H931N;ENSP00000384288:H969N;ENSP00000444596:H931N	ENSP00000349892:H931N	H	-	1	0	MYCBP2	76696621	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.474000	0.97718	2.640000	0.89533	0.655000	0.94253	CAT		0.348	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		45	95	1	0	2.01872e-29	0.014410	2.44282e-29	45	95				
RICTOR	253260	broad.mit.edu	37	5	38945658	38945658	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:38945658C>G	ENST00000357387.3	-	34	4598	c.4568G>C	c.(4567-4569)tGt>tCt	p.C1523S	RICTOR_ENST00000296782.5_Missense_Mutation_p.C1547S	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AATACAGACACAATAAAGGCA	0.403																																						ENST00000357387.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(4567-4569)tGt>tCt		RPTOR independent companion of MTOR, complex 2							161.0	145.0	151.0					5																	38945658		2203	4300	6503	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38945658C>G		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.4568G>C	5.37:g.38945658C>G	ENSP00000349959:p.Cys1523Ser					RICTOR_ENST00000296782.5_Missense_Mutation_p.C1547S	p.C1523S	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN			34	4598	-	all_lung(31;0.000396)		1523						Missense_Mutation	SNP	ENST00000357387.3	37	c.4568G>C	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986732	0.93106	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.66280	-0.15;-0.2	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.79281	0.4419	M	0.68593	2.085	0.80722	D	1	D;D	0.61080	0.989;0.989	D;D	0.75020	0.985;0.985	T	0.79478	-0.1787	10	0.87932	D	0	-13.4599	20.3242	0.98691	0.0:1.0:0.0:0.0	.	1523;1547	Q6R327;Q6R327-3	RICTR_HUMAN;.	S	1523;1547	ENSP00000349959:C1523S;ENSP00000296782:C1547S	ENSP00000296782:C1547S	C	-	2	0	RICTOR	38981415	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.903000	0.75703	2.882000	0.98803	0.655000	0.94253	TGT		0.403	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		51	128	0	0	0	0.014410	0	51	128				
TACC2	10579	broad.mit.edu	37	10	123984267	123984267	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:123984267A>G	ENST00000369005.1	+	12	7913	c.7573A>G	c.(7573-7575)Att>Gtt	p.I2525V	TACC2_ENST00000515273.1_Missense_Mutation_p.I2529V|TACC2_ENST00000360561.3_Missense_Mutation_p.I603V|TACC2_ENST00000358010.1_Missense_Mutation_p.I671V|TACC2_ENST00000515603.1_Missense_Mutation_p.I2480V|TACC2_ENST00000369001.1_Missense_Mutation_p.I229V|TACC2_ENST00000369004.3_Missense_Mutation_p.I615V|TACC2_ENST00000368999.1_Missense_Mutation_p.I615V|TACC2_ENST00000513429.1_Missense_Mutation_p.I671V|TACC2_ENST00000260733.3_Missense_Mutation_p.I603V|TACC2_ENST00000334433.3_Missense_Mutation_p.I2525V|TACC2_ENST00000369000.1_Missense_Mutation_p.I225V|TACC2_ENST00000453444.2_Missense_Mutation_p.I2529V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2525					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTCCTATGAAATTGAATATAT	0.443																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(7573-7575)Att>Gtt		transforming, acidic coiled-coil containing protein 2							132.0	153.0	146.0					10																	123984267		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123984267A>G	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7573A>G	10.37:g.123984267A>G	ENSP00000358001:p.Ile2525Val					TACC2_ENST00000513429.1_Missense_Mutation_p.I671V|TACC2_ENST00000260733.3_Missense_Mutation_p.I603V|TACC2_ENST00000515603.1_Missense_Mutation_p.I2480V|TACC2_ENST00000453444.2_Missense_Mutation_p.I2529V|TACC2_ENST00000369000.1_Missense_Mutation_p.I225V|TACC2_ENST00000369001.1_Missense_Mutation_p.I229V|TACC2_ENST00000368999.1_Missense_Mutation_p.I615V|TACC2_ENST00000358010.1_Missense_Mutation_p.I671V|TACC2_ENST00000334433.3_Missense_Mutation_p.I2525V|TACC2_ENST00000369004.3_Missense_Mutation_p.I615V|TACC2_ENST00000360561.3_Missense_Mutation_p.I603V|TACC2_ENST00000515273.1_Missense_Mutation_p.I2529V	p.I2525V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			12	7913	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2525					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.7573A>G	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.277758	0.80692	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000496913;ENST00000508411	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.27256	3.56;3.19;3.6;3.53;3.56;3.19;3.6;1.68;1.68;3.03;2.99;2.94;3.06;2.65;1.87	5.5	5.5	0.81552	.	0.000000	0.37393	N	0.002117	T	0.44603	0.1301	L	0.53249	1.67	0.45676	D	0.998595	D;D;P;D;D;D;D;D;D;D	0.71674	0.998;0.983;0.943;0.992;0.983;0.995;0.99;0.99;0.99;0.992	D;D;D;D;D;D;D;D;D;D	0.81914	0.995;0.977;0.946;0.99;0.977;0.99;0.99;0.99;0.99;0.992	T	0.19031	-1.0318	10	0.20046	T	0.44	-4.5936	15.6011	0.76626	1.0:0.0:0.0:0.0	.	620;2529;615;2480;2529;603;603;225;671;2525	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;.;TACC2_HUMAN	V	2525;671;2529;2480;2525;671;2529;2515;229;225;603;615;615;603;620;260;136	ENSP00000358001:I2525V;ENSP00000425062:I671V;ENSP00000424467:I2529V;ENSP00000427618:I2480V;ENSP00000334280:I2525V;ENSP00000350701:I671V;ENSP00000395048:I2529V;ENSP00000357997:I229V;ENSP00000357996:I225V;ENSP00000353763:I603V;ENSP00000357995:I615V;ENSP00000422815:I615V;ENSP00000260733:I603V;ENSP00000420967:I620V;ENSP00000422725:I260V	ENSP00000260733:I603V	I	+	1	0	TACC2	123974257	1.000000	0.71417	0.990000	0.47175	0.993000	0.82548	7.603000	0.82811	2.078000	0.62432	0.533000	0.62120	ATT		0.443	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			24	364	0	0	0	0.002780	0	24	364				
ADAM11	4185	broad.mit.edu	37	17	42850678	42850678	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:42850678C>T	ENST00000200557.6	+	11	1044	c.875C>T	c.(874-876)aCa>aTa	p.T292I	ADAM11_ENST00000535346.1_Missense_Mutation_p.T92I	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	292	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GCCATGGAAACATGGGCAGAT	0.612																																						ENST00000200557.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(874-876)aCa>aTa		ADAM metallopeptidase domain 11							130.0	116.0	121.0					17																	42850678		2203	4300	6503	SO:0001583	missense	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42850678C>T	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.875C>T	17.37:g.42850678C>T	ENSP00000200557:p.Thr292Ile					ADAM11_ENST00000535346.1_Missense_Mutation_p.T92I	p.T292I	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN			11	1044	+		Prostate(33;0.0959)	292			Peptidase M12B.		Q14808|Q14809|Q14810	Missense_Mutation	SNP	ENST00000200557.6	37	c.875C>T	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803121	0.50315	.	.	ENSG00000073670	ENST00000200557;ENST00000535346;ENST00000355638	T;T	0.57273	0.41;0.41	4.77	4.77	0.60923	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.48750	0.1517	N	0.08118	0	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.972;1.0	T	0.38714	-0.9648	10	0.02654	T	1	.	16.7331	0.85440	0.0:1.0:0.0:0.0	.	92;292	B4DKD2;O75078	.;ADA11_HUMAN	I	292;92;192	ENSP00000200557:T292I;ENSP00000443773:T92I	ENSP00000200557:T292I	T	+	2	0	ADAM11	40206204	1.000000	0.71417	0.993000	0.49108	0.011000	0.07611	7.630000	0.83225	2.478000	0.83669	0.561000	0.74099	ACA		0.612	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390		78	143	0	0	0	0.014410	0	78	143				
IQGAP3	128239	broad.mit.edu	37	1	156509711	156509711	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:156509711G>C	ENST00000361170.2	-	24	2821	c.2811C>G	c.(2809-2811)gaC>gaG	p.D937E	IQGAP3_ENST00000498755.1_5'Flank	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	937					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTTCTGCTTGTCCAGAACCA	0.498																																						ENST00000361170.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(2809-2811)gaC>gaG		IQ motif containing GTPase activating protein 3							192.0	175.0	181.0					1																	156509711		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156509711G>C	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.2811C>G	1.37:g.156509711G>C	ENSP00000354451:p.Asp937Glu						p.D937E	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			24	2821	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		937					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.2811C>G	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187233	0.38609	.	.	ENSG00000183856	ENST00000361170	T	0.02472	4.28	4.83	2.96	0.34315	.	0.056365	0.64402	D	0.000001	T	0.02418	0.0074	N	0.25647	0.755	0.38982	D	0.958972	D	0.64830	0.994	D	0.72625	0.978	T	0.59408	-0.7460	10	0.32370	T	0.25	-27.326	6.716	0.23304	0.2858:0.0:0.7142:0.0	.	937	Q86VI3	IQGA3_HUMAN	E	937	ENSP00000354451:D937E	ENSP00000354451:D937E	D	-	3	2	IQGAP3	154776335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.730000	0.55006	0.628000	0.30357	0.551000	0.68910	GAC		0.498	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		61	97	0	0	0	0.014410	0	61	97				
NUMA1	4926	broad.mit.edu	37	11	71733393	71733393	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:71733393T>C	ENST00000393695.3	-	7	695	c.364A>G	c.(364-366)Aaa>Gaa	p.K122E	NUMA1_ENST00000351960.6_Missense_Mutation_p.K122E|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.K122E	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						ACCTGAATTTTATATTCAAAC	0.483			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(364-366)Aaa>Gaa		nuclear mitotic apparatus protein 1							171.0	177.0	175.0					11																	71733393		2200	4293	6493	SO:0001583	missense	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71733393T>C	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.364A>G	11.37:g.71733393T>C	ENSP00000377298:p.Lys122Glu					NUMA1_ENST00000351960.6_Missense_Mutation_p.K122E|NUMA1_ENST00000358965.6_Missense_Mutation_p.K122E	p.K122E	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			7	695	-			122						Missense_Mutation	SNP	ENST00000393695.3	37	c.364A>G	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.821538	0.71028	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000542977;ENST00000537217;ENST00000544238;ENST00000543937;ENST00000543009;ENST00000537930;ENST00000544129;ENST00000535947	T;T;T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.03	3.9	0.45041	.	0.232422	0.36303	N	0.002661	T	0.32734	0.0839	L	0.55481	1.735	0.22629	N	0.998914	B;P;P;B;B;B	0.40731	0.204;0.728;0.728;0.447;0.287;0.03	B;B;B;B;B;B	0.33521	0.165;0.164;0.164;0.117;0.124;0.055	T	0.28650	-1.0037	10	0.52906	T	0.07	.	8.2624	0.31793	0.0:0.1672:0.0:0.8328	.	122;122;122;122;122;122	F5H6Y5;F5H4J1;A8K394;Q14980-2;Q14980;Q9BTE9	.;.;.;.;NUMA1_HUMAN;.	E	122	ENSP00000260051:K122E;ENSP00000351851:K122E;ENSP00000377298:K122E;ENSP00000444880:K122E;ENSP00000442936:K122E;ENSP00000442761:K122E;ENSP00000439759:K122E;ENSP00000438821:K122E;ENSP00000438589:K122E;ENSP00000439092:K122E;ENSP00000444175:K122E	ENSP00000260051:K122E	K	-	1	0	NUMA1	71411041	0.997000	0.39634	0.998000	0.56505	0.994000	0.84299	0.865000	0.27940	1.054000	0.40438	0.533000	0.62120	AAA		0.483	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			161	194	0	0	0	0.014410	0	161	194				
DYNC1H1	1778	broad.mit.edu	37	14	102505823	102505823	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:102505823C>T	ENST00000360184.4	+	61	11699	c.11535C>T	c.(11533-11535)aaC>aaT	p.N3845N	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3845					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGAACCCGAACCTGAAGGGTG	0.542																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(11533-11535)aaC>aaT		dynein, cytoplasmic 1, heavy chain 1							103.0	94.0	97.0					14																	102505823		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102505823C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.11535C>T	14.37:g.102505823C>T						RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	p.N3845N	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			61	11699	+			3845					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.11535C>T	CCDS9966.1																																																																																				0.542	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		5	126	0	0	0	0.000602	0	5	126				
TCOF1	6949	broad.mit.edu	37	5	149769510	149769510	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:149769510G>T	ENST00000504761.2	+	19	3107	c.3107G>T	c.(3106-3108)aGc>aTc	p.S1036I	TCOF1_ENST00000439160.2_Missense_Mutation_p.S1036I|TCOF1_ENST00000513346.1_Missense_Mutation_p.S1073I|TCOF1_ENST00000451292.1_Missense_Mutation_p.S1073I|TCOF1_ENST00000377797.3_Missense_Mutation_p.S1036I|TCOF1_ENST00000445265.2_Missense_Mutation_p.S959I|TCOF1_ENST00000323668.7_Missense_Mutation_p.S959I			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1036					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCAAAGCCAGCATGGCTGGG	0.582																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(3217-3219)aGc>aTc		Treacher Collins-Franceschetti syndrome 1							59.0	55.0	57.0					5																	149769510		2203	4300	6503	SO:0001583	missense	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149769510G>T		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3107G>T	5.37:g.149769510G>T	ENSP00000421655:p.Ser1036Ile					TCOF1_ENST00000513346.1_Missense_Mutation_p.S1073I|TCOF1_ENST00000439160.2_Missense_Mutation_p.S1036I|TCOF1_ENST00000445265.2_Missense_Mutation_p.S959I|TCOF1_ENST00000377797.3_Missense_Mutation_p.S1036I|TCOF1_ENST00000504761.2_Missense_Mutation_p.S1036I|TCOF1_ENST00000323668.7_Missense_Mutation_p.S959I	p.S1073I			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		20	3326	+		all_hematologic(541;0.224)	1036					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	c.3218G>T	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419195	0.25552	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T	0.76578	-0.98;-0.96;-0.96;-0.96;-0.62;-1.03;-0.96;-0.95	2.22	1.33	0.21861	.	.	.	.	.	T	0.69744	0.3145	L	0.48642	1.525	0.09310	N	1	P;P;P;D;P	0.54772	0.902;0.902;0.902;0.968;0.902	P;P;P;P;P	0.44811	0.461;0.461;0.461;0.452;0.461	T	0.61053	-0.7140	9	0.72032	D	0.01	.	4.989	0.14205	0.1799:0.0:0.8201:0.0	.	1036;959;1036;1036;959	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;TCOF_HUMAN;.	I	1073;1036;959;959;1036;1036;1036;1073	ENSP00000400939:S1073I;ENSP00000367028:S1036I;ENSP00000409944:S959I;ENSP00000325223:S959I;ENSP00000406888:S1036I;ENSP00000390717:S1036I;ENSP00000421655:S1036I;ENSP00000427484:S1073I	ENSP00000325223:S959I	S	+	2	0	TCOF1	149749703	0.012000	0.17670	0.035000	0.18076	0.007000	0.05969	0.692000	0.25482	0.486000	0.27676	-0.157000	0.13467	AGC		0.582	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		28	39	1	0	5.45727e-16	0.008361	6.28677e-16	28	39				
PRKDC	5591	broad.mit.edu	37	8	48840368	48840368	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:48840368A>G	ENST00000314191.2	-	20	2278	c.2222T>C	c.(2221-2223)aTt>aCt	p.I741T	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.I741T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	741					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ATCGAGTTCAATGATGTTGTG	0.448								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(2221-2223)aTt>aCt	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							125.0	131.0	129.0					8																	48840368		2024	4172	6196	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48840368A>G		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.2222T>C	8.37:g.48840368A>G	ENSP00000313420:p.Ile741Thr					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.I741T	p.I741T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			20	2278	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	741					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.2222T>C		.	.	.	.	.	.	.	.	.	.	A	16.46	3.129763	0.56721	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02863	4.2;4.13	5.35	5.35	0.76521	Armadillo-type fold (1);	0.225114	0.37809	N	0.001933	T	0.12178	0.0296	.	.	.	0.47584	D	0.999462	D;D;D	0.59357	0.985;0.975;0.975	P;P;P	0.59171	0.853;0.717;0.717	T	0.00200	-1.1927	9	0.87932	D	0	.	15.6202	0.76799	1.0:0.0:0.0:0.0	.	741;741;741	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	T	741	ENSP00000313420:I741T;ENSP00000345182:I741T	ENSP00000313420:I741T	I	-	2	0	PRKDC	49002921	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	8.655000	0.91098	2.145000	0.66743	0.460000	0.39030	ATT		0.448	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		25	37	0	0	0	0.003954	0	25	37				
CDH7	1005	broad.mit.edu	37	18	63547747	63547747	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr18:63547747G>T	ENST00000397968.2	+	12	2401	c.1975G>T	c.(1975-1977)Gga>Tga	p.G659*	CDH7_ENST00000323011.3_Nonsense_Mutation_p.G659*	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	659					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CGAGGGCGGGGGAGAGGAGGA	0.478																																						ENST00000397968.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(1975-1977)Gga>Tga		cadherin 7, type 2							71.0	73.0	72.0					18																	63547747		2203	4300	6503	SO:0001587	stop_gained	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63547747G>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1975G>T	18.37:g.63547747G>T	ENSP00000381058:p.Gly659*					CDH7_ENST00000323011.3_Nonsense_Mutation_p.G659*	p.G659*	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN			12	2401	+		Esophageal squamous(42;0.129)	659					Q9H157	Nonsense_Mutation	SNP	ENST00000397968.2	37	c.1975G>T	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	38	6.816877	0.97861	.	.	ENSG00000081138	ENST00000323011;ENST00000397966;ENST00000397968	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6378	0.95744	0.0:0.0:1.0:0.0	.	.	.	.	X	659	.	ENSP00000319166:G659X	G	+	1	0	CDH7	61698727	1.000000	0.71417	0.647000	0.29507	0.077000	0.17291	9.869000	0.99810	2.631000	0.89168	0.655000	0.94253	GGA		0.478	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		8	104	1	0	1.06961e-07	0.003080	1.19399e-07	8	104				
CTBP2	1488	broad.mit.edu	37	10	126682552	126682552	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:126682552C>T	ENST00000337195.5	-	8	1182	c.783G>A	c.(781-783)atG>atA	p.M261I	CTBP2_ENST00000531469.1_Missense_Mutation_p.M261I|CTBP2_ENST00000411419.2_Missense_Mutation_p.M261I|CTBP2_ENST00000334808.6_Missense_Mutation_p.M329I|CTBP2_ENST00000309035.6_Missense_Mutation_p.M801I|CTBP2_ENST00000494626.2_Missense_Mutation_p.M261I	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	261					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTCCCTGCCTCATCTGTGGAA	0.547																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2401-2403)atG>atA		C-terminal binding protein 2							69.0	72.0	71.0					10																	126682552		2201	4300	6501	SO:0001583	missense	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126682552C>T	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.783G>A	10.37:g.126682552C>T	ENSP00000338615:p.Met261Ile					CTBP2_ENST00000334808.6_Missense_Mutation_p.M329I|CTBP2_ENST00000411419.2_Missense_Mutation_p.M261I|CTBP2_ENST00000337195.5_Missense_Mutation_p.M261I|CTBP2_ENST00000494626.2_Missense_Mutation_p.M261I|CTBP2_ENST00000531469.1_Missense_Mutation_p.M261I	p.M801I	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	6	2533	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	261					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.2403G>A	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200853	0.94997	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	4.93	4.93	0.64822	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (2);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.90793	0.7109	M	0.80847	2.515	0.58432	D	0.999999	P;P;P	0.51449	0.945;0.926;0.89	P;P;P	0.61800	0.841;0.894;0.732	D	0.92237	0.5797	10	0.87932	D	0	.	18.1466	0.89659	0.0:1.0:0.0:0.0	.	261;801;329	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	I	261;801;329;261;261;261	ENSP00000338615:M261I;ENSP00000311825:M801I;ENSP00000357816:M329I;ENSP00000434630:M261I;ENSP00000436285:M261I;ENSP00000410474:M261I	ENSP00000311825:M801I	M	-	3	0	CTBP2	126672542	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.479000	0.81095	2.276000	0.75962	0.561000	0.74099	ATG		0.547	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		74	118	0	0	0	0.014410	0	74	118				
MT-ND6	4541	broad.mit.edu	37	M	14556	14556	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrM:14556A>G	ENST00000361681.2	-	1	117	c.118T>C	c.(118-120)Tgt>Cgt	p.C40R	MT-TP_ENST00000387461.2_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA			P03923	NU6M_HUMAN	mitochondrially encoded NADH dehydrogenase 6	40					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						AATAATAACACACCCGACCAC	0.393																																						ENST00000361681.2																			0				breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						c.(118-120)Tgt>Cgt		mitochondrially encoded NADH dehydrogenase 6																																				SO:0001583	missense	4541							g.chrM:14556A>G			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198695	ENSG00000198695	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7462	protein-coding gene	gene with protein product	"""complex I ND6 subunit"", ""NADH-ubiquinone oxidoreductase chain 6"""	516006	"""NADH dehydrogenase 6"""	MTND6			Standard			Approved	NAD6, ND6		P03923		ENST00000361681.2:c.118T>C	M.37:g.14556A>G	ENSP00000354665:p.Cys40Arg						p.C40R							1	117	-								Q34774|Q8HG30	Missense_Mutation	SNP	ENST00000361681.2	37	c.118T>C																																																																																					0.393	MT-ND6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024037		33	3	0	0	0	0.003755	0	33	3				
NEU1	4758	broad.mit.edu	37	6	31829196	31829196	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:31829196G>A	ENST00000375631.4	-	3	513	c.384C>T	c.(382-384)gtC>gtT	p.V128V		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	128					glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	CCCCATCATTGACAATGAACG	0.493																																						ENST00000375631.4																			0				kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						c.(382-384)gtC>gtT		sialidase 1 (lysosomal sialidase)	Oseltamivir(DB00198)|Zanamivir(DB00558)						62.0	66.0	65.0					6																	31829196		1510	2708	4218	SO:0001819	synonymous_variant	4758					cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding	g.chr6:31829196G>A	AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.384C>T	6.37:g.31829196G>A							p.V128V	NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN			3	513	-			128						Silent	SNP	ENST00000375631.4	37	c.384C>T	CCDS4723.1																																																																																				0.493	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076616.2			62	79	0	0	0	0.014410	0	62	79				
KCNV2	169522	broad.mit.edu	37	9	2718621	2718621	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:2718621C>T	ENST00000382082.3	+	1	1120	c.882C>T	c.(880-882)ggC>ggT	p.G294G		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	294					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		AGGGCGAGGGCGGCCCAGACC	0.682																																						ENST00000382082.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(880-882)ggC>ggT		potassium channel, subfamily V, member 2							28.0	30.0	29.0					9																	2718621		2200	4293	6493	SO:0001819	synonymous_variant	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718621C>T	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.882C>T	9.37:g.2718621C>T							p.G294G	NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	1120	+			294					Q5T6X0	Silent	SNP	ENST00000382082.3	37	c.882C>T	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.525113	0.00959	.	.	ENSG00000168263	ENST00000423608	.	.	.	4.93	-0.823	0.10815	.	.	.	.	.	T	0.35740	0.0942	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.38200	-0.9672	5	0.72032	D	0.01	.	4.4691	0.11703	0.1117:0.4057:0.3593:0.1233	.	.	.	.	W	245	.	ENSP00000409635:R245W	R	+	1	2	KCNV2	2708621	0.002000	0.14202	0.042000	0.18584	0.071000	0.16799	0.016000	0.13377	-0.149000	0.11215	0.563000	0.77884	CGG		0.682	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		4	55	0	0	0	0.000602	0	4	55				
VARS2	57176	broad.mit.edu	37	6	30890728	30890728	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:30890728C>A	ENST00000321897.5	+	22	2792	c.2160C>A	c.(2158-2160)ttC>ttA	p.F720L	VARS2_ENST00000542001.1_Missense_Mutation_p.F580L|VARS2_ENST00000541562.1_Missense_Mutation_p.F750L|VARS2_ENST00000416670.2_Missense_Mutation_p.F720L|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	720					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CCCTGAGATTCACACTCTGCT	0.612																																						ENST00000321897.5																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(2158-2160)ttC>ttA		valyl-tRNA synthetase 2, mitochondrial							93.0	100.0	98.0					6																	30890728		1509	2708	4217	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30890728C>A	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2160C>A	6.37:g.30890728C>A	ENSP00000316092:p.Phe720Leu					VARS2_ENST00000416670.2_Missense_Mutation_p.F720L|VARS2_ENST00000542001.1_Missense_Mutation_p.F580L|VARS2_ENST00000541562.1_Missense_Mutation_p.F750L|VARS2_ENST00000476162.1_3'UTR	p.F720L			Q5ST30	SYVM_HUMAN			22	2792	+			720					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.2160C>A	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.915096	0.52546	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.37	-2.03	0.07365	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.096084	0.64402	D	0.000001	T	0.16896	0.0406	L	0.41027	1.25	0.30821	N	0.737783	P;P;B;D	0.55385	0.867;0.504;0.161;0.971	P;B;B;P	0.51487	0.671;0.34;0.209;0.649	T	0.15896	-1.0421	10	0.87932	D	0	-23.9831	11.376	0.49728	0.0:0.384:0.0:0.616	.	158;718;750;720	Q5ST30-2;B7ZL25;F5GXJ0;Q5ST30	.;.;.;SYVM_HUMAN	L	720;720;580;750	ENSP00000316092:F720L;ENSP00000394802:F720L;ENSP00000438200:F580L;ENSP00000441000:F750L	ENSP00000316092:F720L	F	+	3	2	VARS2	30998707	0.000000	0.05858	0.010000	0.14722	0.963000	0.63663	-0.865000	0.04250	-0.705000	0.05035	-0.258000	0.10820	TTC		0.612	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		104	97	1	0	5.19218e-38	0.014410	6.39037e-38	104	97				
KRTAP1-3	81850	broad.mit.edu	37	17	39190847	39190847	+	Missense_Mutation	SNP	C	C	T	rs201959250		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:39190847C>T	ENST00000344363.5	-	1	260	c.227G>A	c.(226-228)tGc>tAc	p.C76Y		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	86			Missing (in allele KAP1.9). {ECO:0000269|PubMed:12228244}.			keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTGGTCTGGCAGCAGCTTGG	0.607																																						ENST00000344363.5																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12						c.(226-228)tGc>tAc		keratin associated protein 1-3		C	TYR/CYS	2,4018		0,2,2008	32.0	37.0	35.0		227	0.4	0.3	17		35	0,8350		0,0,4175	no	missense	KRTAP1-3	NM_030966.1	194	0,2,6183	TT,TC,CC		0.0,0.0498,0.0162	benign	76/168	39190847	2,12368	2010	4175	6185	SO:0001583	missense	81850					extracellular region|keratin filament	structural constituent of epidermis	g.chr17:39190847C>T	AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"""Keratin associated proteins"""	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.227G>A	17.37:g.39190847C>T	ENSP00000344420:p.Cys76Tyr						p.C76Y	NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	260	-		Breast(137;0.000496)	86		Missing (in allele KAP1.9).			Q07628|Q8IUG0|Q9BYS2	Missense_Mutation	SNP	ENST00000344363.5	37	c.227G>A	CCDS42323.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933537	0.52866	4.98E-4	0.0	ENSG00000221880	ENST00000344363	T	0.30981	1.51	3.73	0.404	0.16355	.	.	.	.	.	T	0.23451	0.0567	.	.	.	0.31238	N	0.695542	B	0.29862	0.259	B	0.32022	0.139	T	0.27088	-1.0084	8	0.62326	D	0.03	.	6.2559	0.20874	0.3778:0.4385:0.1837:0.0	.	86	Q8IUG1	KRA13_HUMAN	Y	76	ENSP00000344420:C76Y	ENSP00000344420:C76Y	C	-	2	0	KRTAP1-3	36444373	0.999000	0.42202	0.260000	0.24451	0.966000	0.64601	-0.149000	0.10204	0.137000	0.18759	0.655000	0.94253	TGC		0.607	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1			5	63	0	0	0	0.013537	0	5	63				
NBPF10	100132406	broad.mit.edu	37	1	145327548	145327548	+	Missense_Mutation	SNP	A	A	G	rs202019968		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:145327548A>G	ENST00000342960.5	+	32	4140	c.4105A>G	c.(4105-4107)Aat>Gat	p.N1369D	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	712						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGACTCACTGAATAGATGTTA	0.473																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(4105-4107)Aat>Gat		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145327548A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.4105A>G	1.37:g.145327548A>G	ENSP00000345684:p.Asn1369Asp					NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	p.N1369D	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	32	4140	+	all_hematologic(923;0.032)		1369					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.4105A>G	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.181510	0.00308	.	.	ENSG00000163386	ENST00000342960	T	0.03301	3.98	1.5	-0.755	0.11061	.	.	.	.	.	T	0.00210	0.0006	N	0.00179	-1.91	0.09310	N	1	.	.	.	.	.	.	T	0.40608	-0.9554	7	0.02654	T	1	.	5.1791	0.15150	0.6356:0.0:0.3644:0.0	.	.	.	.	D	1369	ENSP00000345684:N1369D	ENSP00000345684:N1369D	N	+	1	0	NBPF10	144038905	0.003000	0.15002	0.004000	0.12327	0.050000	0.14768	-0.536000	0.06135	-0.488000	0.06726	-1.353000	0.01230	AAT		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		6	118	0	0	0	0.001168	0	6	118				
MCPH1	79648	broad.mit.edu	37	8	6266851	6266851	+	Nonsense_Mutation	SNP	C	C	G	rs121434305		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:6266851C>G	ENST00000344683.5	+	2	150	c.74C>G	c.(73-75)tCa>tGa	p.S25*	RP11-115C21.2_ENST00000500118.2_RNA|RP11-115C21.2_ENST00000606853.1_RNA|MCPH1_ENST00000522905.1_Nonsense_Mutation_p.S25*|RP11-115C21.2_ENST00000523225.1_RNA|MCPH1_ENST00000519480.1_Nonsense_Mutation_p.S25*	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	25	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GAAAATTATTCAAAGACATTT	0.358																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6	GRCh37	CM021634	MCPH1	M	rs121434305	c.(73-75)tCa>tGa		microcephalin 1		C	stop/SER,stop/SER,stop/SER	0,3754		0,0,1877	157.0	147.0	150.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	74,74,74	5.1	1.0	8	dbSNP_132	150	1,8221		0,1,4110	no	stop-gained,stop-gained,stop-gained	MCPH1	NM_001172574.1,NM_001172575.1,NM_024596.3	,,	0,1,5987	GG,GC,CC		0.0122,0.0,0.0084	,,	25/611,25/563,25/836	6266851	1,11975	1877	4111	5988	SO:0001587	stop_gained	79648					microtubule organizing center		g.chr8:6266851C>G	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.74C>G	8.37:g.6266851C>G	ENSP00000342924:p.Ser25*					MCPH1_ENST00000522905.1_Nonsense_Mutation_p.S25*|MCPH1_ENST00000519480.1_Nonsense_Mutation_p.S25*	p.S25*	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	2	150	+		Hepatocellular(245;0.0663)	25			BRCT 1.		B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Nonsense_Mutation	SNP	ENST00000344683.5	37	c.74C>G	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	C	37	6.350629	0.97498	0.0	1.22E-4	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	.	.	.	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.5541	16.0918	0.81094	0.0:1.0:0.0:0.0	.	.	.	.	X	25	.	ENSP00000342924:S25X	S	+	2	0	MCPH1	6254259	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.496000	0.73670	2.381000	0.81170	0.591000	0.81541	TCA		0.358	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		59	122	0	0	0	0.014410	0	59	122				
PAPD4	167153	broad.mit.edu	37	5	78975478	78975478	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:78975478T>G	ENST00000296783.3	+	14	1584	c.1285T>G	c.(1285-1287)Tac>Gac	p.Y429D	PAPD4_ENST00000428308.2_Missense_Mutation_p.Y429D|PAPD4_ENST00000453514.1_Missense_Mutation_p.Y429D|PAPD4_ENST00000423041.2_Missense_Mutation_p.Y425D|PAPD4_ENST00000504233.1_Missense_Mutation_p.Y386D			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	429	PAP-associated.				hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		GAGAAATAAATACATCTGTGT	0.348																																						ENST00000453514.1																			0				biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1285-1287)Tac>Gac		PAP associated domain containing 4							121.0	108.0	112.0					5																	78975478		2203	4299	6502	SO:0001583	missense	167153				histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity	g.chr5:78975478T>G	AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"""TUTase2"""	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.1285T>G	5.37:g.78975478T>G	ENSP00000296783:p.Tyr429Asp					PAPD4_ENST00000428308.2_Missense_Mutation_p.Y429D|PAPD4_ENST00000296783.3_Missense_Mutation_p.Y429D|PAPD4_ENST00000423041.2_Missense_Mutation_p.Y425D|PAPD4_ENST00000504233.1_Missense_Mutation_p.Y386D	p.Y429D	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)	13	1978	+		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)	429			PAP-associated.		Q86WZ2|Q8N927	Missense_Mutation	SNP	ENST00000296783.3	37	c.1285T>G	CCDS4048.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.122534	0.77436	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000504233;ENST00000428308;ENST00000296783	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	6.06	4.91	0.64330	PAP/25A-associated (1);	0.241545	0.40385	N	0.001114	T	0.56001	0.1956	L	0.50333	1.59	0.40577	D	0.981355	B;P;D	0.57257	0.072;0.584;0.979	B;B;P	0.52159	0.103;0.419;0.691	T	0.55522	-0.8128	10	0.36615	T	0.2	-3.0686	11.9271	0.52825	0.0:0.0672:0.0:0.9328	.	429;425;386	Q6PIY7;Q6PIY7-2;D6RAF2	GLD2_HUMAN;.;.	D	429;425;386;429;429	ENSP00000397563:Y429D;ENSP00000393412:Y425D;ENSP00000421966:Y386D;ENSP00000396861:Y429D;ENSP00000296783:Y429D	ENSP00000296783:Y429D	Y	+	1	0	PAPD4	79011234	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.301000	0.72782	1.119000	0.41883	0.533000	0.62120	TAC		0.348	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226967.1	NM_173797		37	86	0	0	0	0.010771	0	37	86				
FOXRED2	80020	broad.mit.edu	37	22	36892016	36892016	+	Missense_Mutation	SNP	G	G	T	rs376453305		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:36892016G>T	ENST00000397224.4	-	7	1715	c.1622C>A	c.(1621-1623)aCc>aAc	p.T541N	FOXRED2_ENST00000366463.3_Missense_Mutation_p.T93N|FOXRED2_ENST00000216187.6_Missense_Mutation_p.T541N|FOXRED2_ENST00000397223.4_Missense_Mutation_p.T541N	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	541					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTGCTCACCGGTGGGGAGGTA	0.542																																						ENST00000397224.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1621-1623)aCc>aAc		FAD-dependent oxidoreductase domain containing 2							96.0	92.0	94.0					22																	36892016		2203	4300	6503	SO:0001583	missense	80020				ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chr22:36892016G>T	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1622C>A	22.37:g.36892016G>T	ENSP00000380401:p.Thr541Asn					FOXRED2_ENST00000216187.6_Missense_Mutation_p.T541N|FOXRED2_ENST00000366463.3_Missense_Mutation_p.T93N|FOXRED2_ENST00000397223.4_Missense_Mutation_p.T541N	p.T541N	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN			7	1715	-			541					B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	ENST00000397224.4	37	c.1622C>A	CCDS13929.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538925	0.65085	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000366463;ENST00000397223	T;T;T;T	0.49432	2.39;2.39;0.78;2.39	5.52	5.52	0.82312	.	0.047591	0.85682	D	0.000000	T	0.50888	0.1642	M	0.61703	1.905	0.80722	D	1	P	0.45902	0.868	B	0.41036	0.346	T	0.56420	-0.7982	10	0.54805	T	0.06	-30.5522	19.4887	0.95040	0.0:0.0:1.0:0.0	.	541	Q8IWF2	FXRD2_HUMAN	N	541;541;93;541	ENSP00000380401:T541N;ENSP00000216187:T541N;ENSP00000382543:T93N;ENSP00000380400:T541N	ENSP00000216187:T541N	T	-	2	0	FOXRED2	35221962	1.000000	0.71417	0.998000	0.56505	0.773000	0.43773	8.714000	0.91412	2.607000	0.88179	0.650000	0.86243	ACC		0.542	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2	NM_024955		91	137	1	0	6.26597e-58	0.014410	7.84608e-58	91	137				
VPS33A	65082	broad.mit.edu	37	12	122723269	122723269	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:122723269G>T	ENST00000267199.4	-	10	1279	c.1167C>A	c.(1165-1167)gtC>gtA	p.V389V	RP11-512M8.5_ENST00000535844.1_Silent_p.V350V	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	389					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TGTAATTGTTGACCTGGAAAT	0.383																																						ENST00000267199.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28						c.(1165-1167)gtC>gtA		vacuolar protein sorting 33 homolog A (S. cerevisiae)							139.0	124.0	129.0					12																	122723269		2203	4300	6503	SO:0001819	synonymous_variant	65082				lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr12:122723269G>T	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.1167C>A	12.37:g.122723269G>T						RP11-512M8.5_ENST00000535844.1_Silent_p.V350V	p.V389V	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)	10	1279	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		389					Q547V4|Q9H5Q0	Silent	SNP	ENST00000267199.4	37	c.1167C>A	CCDS9231.1																																																																																				0.383	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2			17	255	1	0	2.23348e-06	0.004007	2.41821e-06	17	255				
MTDH	92140	broad.mit.edu	37	8	98731381	98731381	+	Silent	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:98731381T>C	ENST00000336273.3	+	10	1813	c.1485T>C	c.(1483-1485)acT>acC	p.T495T	MTDH_ENST00000519934.1_Silent_p.T439T	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	495					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			CCATAAGCACTAGTGATCCAG	0.413																																						ENST00000336273.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1483-1485)acT>acC		metadherin							84.0	89.0	87.0					8																	98731381		2203	4300	6503	SO:0001819	synonymous_variant	92140				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	g.chr8:98731381T>C	AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1485T>C	8.37:g.98731381T>C						MTDH_ENST00000519934.1_Silent_p.T439T	p.T495T	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.178)		10	1813	+	Breast(36;2.56e-06)		495					Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Silent	SNP	ENST00000336273.3	37	c.1485T>C	CCDS6274.1																																																																																				0.413	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2			85	152	0	0	0	0.014410	0	85	152				
CT47B1	643311	broad.mit.edu	37	X	120008925	120008925	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chrX:120008925C>T	ENST00000371311.3	-	1	854	c.600G>A	c.(598-600)gcG>gcA	p.A200A		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	200								p.A200A(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CTGGGACCGACGCGGCCTCCT	0.716																																						ENST00000371311.3																			1	Substitution - coding silent(1)	p.A200A(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(598-600)gcG>gcA		cancer/testis antigen family 47, member B1																																				SO:0001819	synonymous_variant	643311							g.chrX:120008925C>T		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.600G>A	X.37:g.120008925C>T							p.A200A	NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN			1	854	-			200					A6NM97	Silent	SNP	ENST00000371311.3	37	c.600G>A	CCDS48161.1																																																																																				0.716	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		3	23	0	0	0	1	0	3	23				
SLC16A4	9122	broad.mit.edu	37	1	110919782	110919782	+	Splice_Site	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:110919782A>G	ENST00000369779.4	-	7	1281	c.1032T>C	c.(1030-1032)ggT>ggC	p.G344G	SLC16A4_ENST00000497687.1_5'Flank|SLC16A4_ENST00000541986.1_Splice_Site_p.G282G|SLC16A4_ENST00000369781.4_Splice_Site_p.G176G|SLC16A4_ENST00000437429.2_Splice_Site_p.G234G|SLC16A4_ENST00000472422.2_Splice_Site_p.G296G	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	344					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	TCTCAAGGATACCTGGAACAA	0.398																																						ENST00000369779.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16						c.e7-1		solute carrier family 16, member 4	Pyruvic acid(DB00119)						139.0	132.0	135.0					1																	110919782		2203	4300	6503	SO:0001630	splice_region_variant	9122					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr1:110919782A>G	U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"""Solute carriers"""	10925	protein-coding gene	gene with protein product		603878	"""solute carrier family 16 (monocarboxylic acid transporters), member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"""			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.1031-1T>C	1.37:g.110919782A>G						SLC16A4_ENST00000472422.2_Splice_Site_p.G296_splice|SLC16A4_ENST00000369781.4_Splice_Site_p.G176_splice|SLC16A4_ENST00000541986.1_Splice_Site_p.G282_splice|SLC16A4_ENST00000437429.2_Splice_Site_p.G234_splice	p.G344_splice	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	7	1281	-		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	344					A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Splice_Site	SNP	ENST00000369779.4	37	c.1030_splice	CCDS823.1																																																																																				0.398	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696	Silent	4	362	0	0	0	1	0	4	362				
ASXL3	80816	broad.mit.edu	37	18	31241578	31241578	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr18:31241578A>T	ENST00000269197.5	+	5	355		c.e5-1			NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTCTGTTTCTAGTTTGTTCGA	0.378																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.e5-1		additional sex combs like 3 (Drosophila)							53.0	50.0	51.0					18																	31241578		1865	4105	5970	SO:0001630	splice_region_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31241578A>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.356-1A>T	18.37:g.31241578A>T								NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			5	355	+								Q6ZMX6|Q96MU3|Q9UFC5	Splice_Site	SNP	ENST00000269197.5	37		CCDS45847.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.334547	0.81801	.	.	ENSG00000141431	ENST00000269197	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ASXL3	29495576	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.778000	0.75043	2.326000	0.78906	0.533000	0.62120	.		0.378	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2		Intron	3	27	0	0	0	1	0	3	27				
KIF7	374654	broad.mit.edu	37	15	90185512	90185512	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:90185512C>A	ENST00000394412.3	-	11	2392	c.2316G>T	c.(2314-2316)aaG>aaT	p.K772N		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	772	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCTGGAGCTCCTTGCCCTCGA	0.692																																						ENST00000394412.3																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25						c.(2314-2316)aaG>aaT		kinesin family member 7							20.0	20.0	20.0					15																	90185512		2198	4298	6496	SO:0001583	missense	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90185512C>A	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.2316G>T	15.37:g.90185512C>A	ENSP00000377934:p.Lys772Asn						p.K772N	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		11	2392	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		772					Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	c.2316G>T	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	c	11.90	1.775859	0.31411	.	.	ENSG00000166813	ENST00000394412	T	0.54675	0.56	4.87	0.834	0.18880	.	0.348482	0.33753	N	0.004589	T	0.44286	0.1286	L	0.58810	1.83	0.23271	N	0.998003	B;B	0.27559	0.119;0.181	B;B	0.31547	0.132;0.102	T	0.31447	-0.9943	10	0.23302	T	0.38	.	8.5016	0.33161	0.0:0.4976:0.0:0.5024	.	258;772	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	N	772	ENSP00000377934:K772N	ENSP00000377934:K772N	K	-	3	2	KIF7	87986516	0.674000	0.27549	0.516000	0.27786	0.690000	0.40134	0.195000	0.17155	0.117000	0.18138	0.306000	0.20318	AAG		0.692	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		12	16	1	0	5.90632e-09	1	6.79672e-09	12	16				
RBP3	5949	broad.mit.edu	37	10	48387899	48387899	+	Silent	SNP	G	G	A	rs375342580		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr10:48387899G>A	ENST00000224600.4	-	1	3092	c.2979C>T	c.(2977-2979)tcC>tcT	p.S993S	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	993	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GTGGGTCTCCGGAGAGCATCT	0.602																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(2977-2979)tcC>tcT		retinol binding protein 3, interstitial	Vitamin A(DB00162)	G		0,4406		0,0,2203	103.0	105.0	105.0		2979	-11.1	0.0	10		105	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RBP3	NM_002900.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		993/1248	48387899	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48387899G>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2979C>T	10.37:g.48387899G>A							p.S993S	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	3092	-			993			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.2979C>T	CCDS7218.1																																																																																				0.602	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		4	46	0	0	0	1	0	4	46				
TCTN2	79867	broad.mit.edu	37	12	124171482	124171482	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr12:124171482G>A	ENST00000303372.5	+	6	792	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	TCTN2_ENST00000426174.2_Missense_Mutation_p.G221R	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	222					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CTGCTCTGCTGGGACGACGAC	0.527																																						ENST00000303372.5																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(664-666)Ggg>Agg		tectonic family member 2							306.0	261.0	276.0					12																	124171482		2203	4300	6503	SO:0001583	missense	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124171482G>A	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.664G>A	12.37:g.124171482G>A	ENSP00000304941:p.Gly222Arg					TCTN2_ENST00000426174.2_Missense_Mutation_p.G221R	p.G222R	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	6	792	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		222					A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	ENST00000303372.5	37	c.664G>A	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	G	7.965	0.747789	0.15710	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.81908	-1.55;-1.55	5.65	-6.39	0.01951	Domain of unknown function DUF1619 (1);	.	.	.	.	T	0.62441	0.2428	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.50693	-0.8798	9	0.15499	T	0.54	-30.2839	13.7519	0.62912	0.2799:0.5408:0.1793:0.0	.	221;222	A8K7Y8;Q96GX1	.;TECT2_HUMAN	R	221;222	ENSP00000395171:G221R;ENSP00000304941:G222R	ENSP00000304941:G222R	G	+	1	0	TCTN2	122737435	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.118000	0.15605	-1.227000	0.02571	-0.910000	0.02820	GGG		0.527	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		10	760	0	0	0	1	0	10	760				
ERCC5	2073	broad.mit.edu	37	13	103513996	103513996	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr13:103513996G>T	ENST00000355739.4	+	7	2235	c.812G>T	c.(811-813)gGc>gTc	p.G271V	BIVM-ERCC5_ENST00000602836.1_Silent_p.G696G	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	271					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GATGAAGGGGGCTTTCTGAAG	0.388			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000355739.4			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""Mis, N, F"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51						c.(811-813)gGc>gTc	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 5							123.0	126.0	125.0					13																	103513996		2203	4300	6503	SO:0001583	missense	2073	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV				g.chr13:103513996G>T	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.812G>T	13.37:g.103513996G>T	ENSP00000347978:p.Gly271Val					BIVM-ERCC5_ENST00000602836.1_Silent_p.G696G	p.G271V	NM_000123.3	NP_000114.2					7	2235	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)							A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.812G>T	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785173	0.90282	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955	T	0.20332	2.08	5.59	5.59	0.84812	.	0.170125	0.52532	D	0.000069	T	0.48519	0.1504	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.91635	0.944;0.999;0.999	T	0.33548	-0.9864	10	0.42905	T	0.14	-17.8275	19.6012	0.95563	0.0:0.0:1.0:0.0	.	271;271;696	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	V	696;271;103	ENSP00000347978:G271V	ENSP00000347978:G271V	G	+	2	0	ERCC5	102311997	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.234000	0.65343	2.625000	0.88918	0.557000	0.71058	GGC		0.388	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			10	315	1	0	4.3838e-07	1	4.92103e-07	10	315				
PKHD1	5314	broad.mit.edu	37	6	51637542	51637542	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:51637542G>A	ENST00000371117.3	-	55	8875	c.8600C>T	c.(8599-8601)tCc>tTc	p.S2867F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S2867F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2867	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGTGTCCAGGAGTTCTTAGG	0.398																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(8599-8601)tCc>tTc		polycystic kidney and hepatic disease 1 (autosomal recessive)							134.0	135.0	135.0					6																	51637542		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51637542G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8600C>T	6.37:g.51637542G>A	ENSP00000360158:p.Ser2867Phe					PKHD1_ENST00000340994.4_Missense_Mutation_p.S2867F	p.S2867F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			55	8875	-	Lung NSC(77;0.0605)		2867			G8 2.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.8600C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218140	0.58560	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.90900	-2.75;-2.75	5.79	4.92	0.64577	G8 domain (2);	0.235877	0.37857	N	0.001907	D	0.89972	0.6870	M	0.63428	1.95	0.33873	D	0.63519	D;D;D	0.71674	0.998;0.996;0.994	D;P;D	0.70487	0.969;0.759;0.925	D	0.87225	0.2256	10	0.12103	T	0.63	.	12.1178	0.53875	0.0791:0.0:0.9209:0.0	.	2867;2867;2867	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	F	2867	ENSP00000360158:S2867F;ENSP00000341097:S2867F	ENSP00000341097:S2867F	S	-	2	0	PKHD1	51745501	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	4.463000	0.60128	1.445000	0.47624	0.591000	0.81541	TCC		0.398	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		60	77	0	0	0	1	0	60	77				
LDHAL6B	92483	broad.mit.edu	37	15	59499808	59499808	+	Silent	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:59499808T>A	ENST00000307144.4	+	1	767	c.669T>A	c.(667-669)atT>atA	p.I223I	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	223					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						GTTTCTTGATTGGACAAAAGC	0.438																																						ENST00000307144.4																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						c.(667-669)atT>atA		lactate dehydrogenase A-like 6B	NADH(DB00157)						77.0	78.0	78.0					15																	59499808		2191	4290	6481	SO:0001819	synonymous_variant	92483				glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	g.chr15:59499808T>A	AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"""lactate dehydrogenase A-like 6"""	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.669T>A	15.37:g.59499808T>A						MYO1E_ENST00000288235.4_Intron	p.I223I	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN			1	767	+			223					Q6DUY4|Q96LI2	Silent	SNP	ENST00000307144.4	37	c.669T>A	CCDS10171.1																																																																																				0.438	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195		20	47	0	0	0	1	0	20	47				
MYH6	4624	broad.mit.edu	37	14	23871982	23871982	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr14:23871982T>C	ENST00000356287.3	-	10	955	c.926A>G	c.(925-927)tAc>tGc	p.Y309C	MYH6_ENST00000405093.3_Missense_Mutation_p.Y309C			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	309	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGCGTAGTCGTAGGGATTGTT	0.642																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(925-927)tAc>tGc		myosin, heavy chain 6, cardiac muscle, alpha							60.0	45.0	50.0					14																	23871982		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23871982T>C	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.926A>G	14.37:g.23871982T>C	ENSP00000348634:p.Tyr309Cys					MYH6_ENST00000356287.3_Missense_Mutation_p.Y309C	p.Y309C	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	11	996	-	all_cancers(95;2.54e-05)		309			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.926A>G	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	17.62	3.436038	0.62955	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.71698	-0.59;-0.59	4.31	4.31	0.51392	Myosin head, motor domain (2);	.	.	.	.	D	0.85894	0.5803	M	0.90705	3.14	0.80722	D	1	P;P	0.39576	0.679;0.679	P;P	0.61275	0.886;0.886	D	0.87940	0.2716	9	0.72032	D	0.01	.	12.5882	0.56428	0.0:0.0:0.0:1.0	.	309;309	D9YZU2;P13533	.;MYH6_HUMAN	C	309	ENSP00000386041:Y309C;ENSP00000348634:Y309C	ENSP00000348634:Y309C	Y	-	2	0	MYH6	22941822	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	6.011000	0.70760	1.728000	0.51552	0.402000	0.26972	TAC		0.642	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			3	69	0	0	0	1	0	3	69				
GPR64	10149	broad.mit.edu	37	X	19017283	19017283	+	Silent	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chrX:19017283A>T	ENST00000379869.3	-	26	2608	c.2445T>A	c.(2443-2445)atT>atA	p.I815I	GPR64_ENST00000379873.2_Silent_p.I815I|GPR64_ENST00000340581.3_Silent_p.I696I|GPR64_ENST00000360279.4_Silent_p.I793I|GPR64_ENST00000356606.4_Silent_p.I801I|GPR64_ENST00000379878.3_Silent_p.I799I|GPR64_ENST00000354791.3_Silent_p.I799I|GPR64_ENST00000379876.1_Silent_p.I791I|GPR64_ENST00000357544.3_Silent_p.I785I|GPR64_ENST00000357991.3_Silent_p.I812I	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	815					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TCTTCTTTTTAATTCGACAGA	0.433																																						ENST00000354791.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(2395-2397)atT>atA		G protein-coupled receptor 64							138.0	135.0	136.0					X																	19017283		2203	4300	6503	SO:0001819	synonymous_variant	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19017283A>T	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2445T>A	X.37:g.19017283A>T						GPR64_ENST00000379873.2_Silent_p.I815I|GPR64_ENST00000340581.3_Silent_p.I696I|GPR64_ENST00000360279.4_Silent_p.I793I|GPR64_ENST00000357991.3_Silent_p.I812I|GPR64_ENST00000379869.3_Silent_p.I815I|GPR64_ENST00000356606.4_Silent_p.I801I|GPR64_ENST00000379876.1_Silent_p.I791I|GPR64_ENST00000379878.3_Silent_p.I799I|GPR64_ENST00000357544.3_Silent_p.I785I	p.I799I			Q8IZP9	GPR64_HUMAN			25	2638	-	Hepatocellular(33;0.183)		815					B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Silent	SNP	ENST00000379869.3	37	c.2397T>A	CCDS43923.1																																																																																				0.433	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			4	122	0	0	0	1	0	4	122				
COG1	9382	broad.mit.edu	37	17	71196010	71196010	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:71196010G>T	ENST00000299886.4	+	5	1000	c.920G>T	c.(919-921)gGc>gTc	p.G307V		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	307					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			TTAGGAAAGGGCACTGGTGTC	0.522																																						ENST00000299886.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(919-921)gGc>gTc		component of oligomeric golgi complex 1							82.0	72.0	75.0					17																	71196010		2203	4300	6503	SO:0001583	missense	9382				Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	g.chr17:71196010G>T		CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.920G>T	17.37:g.71196010G>T	ENSP00000299886:p.Gly307Val						p.G307V	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		5	1000	+			307					Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	c.920G>T	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521577	0.27211	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.24350	1.86;1.87	5.27	4.31	0.51392	.	0.313882	0.38663	N	0.001619	T	0.36963	0.0986	M	0.72479	2.2	0.80722	D	1	P;P;P	0.51791	0.947;0.948;0.947	P;P;P	0.51229	0.663;0.572;0.663	T	0.18967	-1.0320	10	0.19147	T	0.46	-20.942	13.6662	0.62396	0.0733:0.0:0.9267:0.0	.	307;307;307	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	V	307	ENSP00000400111:G307V;ENSP00000299886:G307V	ENSP00000299886:G307V	G	+	2	0	COG1	68707605	1.000000	0.71417	0.574000	0.28523	0.833000	0.47200	3.163000	0.50763	1.453000	0.47775	0.655000	0.94253	GGC		0.522	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			24	198	1	0	1.99505e-19	1	2.43014e-19	24	198				
SERPINB8	5271	broad.mit.edu	37	18	61650821	61650821	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr18:61650821T>C	ENST00000397985.2	+	5	689	c.433T>C	c.(433-435)Tca>Cca	p.S145P	SERPINB8_ENST00000397988.3_Missense_Mutation_p.S145P|SERPINB8_ENST00000542677.1_5'UTR|SERPINB8_ENST00000353706.2_Missense_Mutation_p.S145P	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	145					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				AGGTAAGATTTCAGAGGTACT	0.398																																						ENST00000397985.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17						c.(433-435)Tca>Cca		serpin peptidase inhibitor, clade B (ovalbumin), member 8							102.0	99.0	100.0					18																	61650821		2203	4300	6503	SO:0001583	missense	5271				regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61650821T>C	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"""Serine (or cysteine) peptidase inhibitors"""	8952	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase 2"""	601697	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"""	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.433T>C	18.37:g.61650821T>C	ENSP00000381072:p.Ser145Pro					SERPINB8_ENST00000353706.2_Missense_Mutation_p.S145P|SERPINB8_ENST00000397988.3_Missense_Mutation_p.S145P|SERPINB8_ENST00000542677.1_5'UTR	p.S145P	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN			5	689	+		Esophageal squamous(42;0.129)	145					B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	c.433T>C	CCDS11991.1	.	.	.	.	.	.	.	.	.	.	T	2.065	-0.414510	0.04766	.	.	ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000397988;ENST00000441827	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.65	1.87	0.25490	Serpin domain (3);	0.289069	0.36972	N	0.002301	T	0.61726	0.2370	N	0.13299	0.325	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.006	T	0.53676	-0.8405	10	0.02654	T	1	.	0.8885	0.01249	0.4097:0.1204:0.1439:0.326	.	145;145	P50452;Q8N178	SPB8_HUMAN;.	P	145	ENSP00000381072:S145P;ENSP00000331368:S145P;ENSP00000381075:S145P;ENSP00000393456:S145P	ENSP00000331368:S145P	S	+	1	0	SERPINB8	59801801	0.008000	0.16893	1.000000	0.80357	0.792000	0.44763	0.995000	0.29706	1.119000	0.41883	0.533000	0.62120	TCA		0.398	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		4	85	0	0	0	1	0	4	85				
SLC3A2	6520	broad.mit.edu	37	11	62649409	62649409	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:62649409G>A	ENST00000377890.2	+	5	940	c.772G>A	c.(772-774)Ggc>Agc	p.G258S	SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377889.2_Missense_Mutation_p.G196S|SLC3A2_ENST00000535296.1_Missense_Mutation_p.G227S|SLC3A2_ENST00000377892.1_Missense_Mutation_p.G289S|SLC3A2_ENST00000338663.7_Missense_Mutation_p.G157S|SLC3A2_ENST00000377891.2_Missense_Mutation_p.G259S	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	258					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GAAGGTGAAGGGCCTTGTGCT	0.542																																						ENST00000377892.1																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						c.(865-867)Ggc>Agc		solute carrier family 3 (amino acid transporter heavy chain), member 2							113.0	106.0	108.0					11																	62649409		2201	4298	6499	SO:0001583	missense	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62649409G>A		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.772G>A	11.37:g.62649409G>A	ENSP00000367122:p.Gly258Ser					SLC3A2_ENST00000377889.2_Missense_Mutation_p.G196S|SLC3A2_ENST00000377890.2_Missense_Mutation_p.G258S|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377891.2_Missense_Mutation_p.G259S|SLC3A2_ENST00000338663.7_Missense_Mutation_p.G157S|SLC3A2_ENST00000535296.1_Missense_Mutation_p.G227S|SLC3A2_ENST00000536981.1_5'UTR	p.G289S			P08195	4F2_HUMAN			6	1089	+			258					Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	c.865G>A	CCDS8039.2	.	.	.	.	.	.	.	.	.	.	G	36	5.919692	0.97105	.	.	ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296;ENST00000338663;ENST00000539458;ENST00000422606	D;D;D;D;D;D;D	0.98234	-4.81;-4.81;-4.81;-4.81;-4.81;-4.81;-4.81	5.53	5.53	0.82687	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.048048	0.85682	D	0.000000	D	0.98535	0.9511	L	0.57536	1.79	0.80722	D	1	D;P;D;D;P	0.76494	0.999;0.936;0.99;0.976;0.941	D;P;D;P;P	0.73380	0.98;0.816;0.96;0.844;0.892	D	0.99643	1.0989	10	0.62326	D	0.03	-24.5869	16.9874	0.86344	0.0:0.0:1.0:0.0	.	196;227;258;157;289	P08195-3;F5GZS6;P08195;P08195-2;P08195-4	.;.;4F2_HUMAN;.;.	S	289;259;258;259;196;227;157;113;139	ENSP00000367124:G289S;ENSP00000367123:G259S;ENSP00000367122:G258S;ENSP00000367121:G196S;ENSP00000444236:G227S;ENSP00000340815:G157S;ENSP00000438032:G113S	ENSP00000340815:G157S	G	+	1	0	SLC3A2	62405985	1.000000	0.71417	0.995000	0.50966	0.835000	0.47333	6.065000	0.71176	2.605000	0.88082	0.655000	0.94253	GGC		0.542	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		30	180	0	0	0	1	0	30	180				
CD2AP	23607	broad.mit.edu	37	6	47573899	47573899	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:47573899A>T	ENST00000359314.5	+	14	1873		c.e14-1			NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein						mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTTATTTTCTAGATGTTGTAA	0.313																																						ENST00000359314.5																			0				kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20						c.e14-1		CD2-associated protein							45.0	46.0	46.0					6																	47573899		2203	4300	6503	SO:0001630	splice_region_variant	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47573899A>T	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.1418-1A>T	6.37:g.47573899A>T								NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		14	1873	+								A6NL34|Q5VYA3|Q9UG97	Splice_Site	SNP	ENST00000359314.5	37		CCDS34472.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.217056	0.79352	.	.	ENSG00000198087	ENST00000359314	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9027	0.79392	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD2AP	47681858	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.761000	0.74945	2.146000	0.66826	0.533000	0.62120	.		0.313	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2		Intron	8	204	0	0	0	1	0	8	204				
RPTOR	57521	broad.mit.edu	37	17	78857684	78857684	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:78857684G>T	ENST00000306801.3	+	16	2116	c.1754G>T	c.(1753-1755)tGg>tTg	p.W585L	RPTOR_ENST00000544334.2_Intron|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	585					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGCAGGATCTGGCAGAACTTC	0.642																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(1753-1755)tGg>tTg		regulatory associated protein of MTOR, complex 1							67.0	62.0	64.0					17																	78857684		2203	4300	6503	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78857684G>T		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1754G>T	17.37:g.78857684G>T	ENSP00000307272:p.Trp585Leu					RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Intron	p.W585L	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			16	2116	+			585					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.1754G>T	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730432	0.89390	.	.	ENSG00000141564	ENST00000306801	T	0.30182	1.54	4.68	4.68	0.58851	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59689	0.2212	M	0.87827	2.91	0.80722	D	1	D	0.76494	0.999	D	0.65233	0.933	T	0.65606	-0.6127	10	0.42905	T	0.14	.	18.0063	0.89210	0.0:0.0:1.0:0.0	.	585	Q8N122	RPTOR_HUMAN	L	585	ENSP00000307272:W585L	ENSP00000307272:W585L	W	+	2	0	RPTOR	76472279	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	9.159000	0.94728	2.322000	0.78497	0.558000	0.71614	TGG		0.642	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		5	160	1	0	5.9392e-07	1	6.60231e-07	5	160				
DCDC1	341019	broad.mit.edu	37	11	30974117	30974117	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:30974117T>A	ENST00000597505.1	-	19	2591		c.e19-2		DCDC1_ENST00000437348.1_Intron|DCDC1_ENST00000406071.2_Splice_Site|DCDC1_ENST00000339794.5_Splice_Site			P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATGGCCCACCTAAAACAAAAG	0.333																																						ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.e19-2		doublecortin domain containing 1							99.0	83.0	88.0					11																	30974117		1812	4070	5882	SO:0001630	splice_region_variant	341019				intracellular signal transduction			g.chr11:30974117T>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.2592-2A>T	11.37:g.30974117T>A						DCDC1_ENST00000406071.2_Splice_Site|DCDC1_ENST00000339794.5_Splice_Site|DCDC1_ENST00000437348.1_Intron				P59894	DCDC1_HUMAN			19	2591	-	Lung SC(675;0.225)							A6PVL6|B7WNX6|Q6ZU04	Splice_Site	SNP	ENST00000597505.1	37																																																																																						0.333	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807	Intron	3	30	0	0	0	1	0	3	30				
ANK1	286	broad.mit.edu	37	8	41559142	41559142	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr8:41559142T>A	ENST00000347528.4	-	22	2472		c.e22-2		ANK1_ENST00000396942.1_Splice_Site|ANK1_ENST00000396945.1_Splice_Site|ANK1_ENST00000289734.7_Splice_Site|ANK1_ENST00000379758.2_Splice_Site|ANK1_ENST00000265709.8_Splice_Site|ANK1_ENST00000352337.4_Splice_Site	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic						axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACTGACTAACTAAAACGAGAA	0.468											OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.e22-2		ankyrin 1, erythrocytic							100.0	94.0	96.0					8																	41559142		2203	4300	6503	SO:0001630	splice_region_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41559142T>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2389-2A>T	8.37:g.41559142T>A			OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	902	ANK1_ENST00000347528.4_Splice_Site|ANK1_ENST00000379758.2_Splice_Site|ANK1_ENST00000265709.8_Splice_Site|ANK1_ENST00000396945.1_Splice_Site|ANK1_ENST00000289734.7_Splice_Site|ANK1_ENST00000352337.4_Splice_Site				P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		22	2472	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)						A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Splice_Site	SNP	ENST00000347528.4	37		CCDS6119.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.342848	0.82022	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000520299;ENST00000265709;ENST00000358820	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2977	0.82784	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANK1	41678299	1.000000	0.71417	0.990000	0.47175	0.773000	0.43773	7.879000	0.87236	2.255000	0.74692	0.533000	0.62120	.		0.468	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475	Intron	6	84	0	0	0	1	0	6	84				
ATP8A1	10396	broad.mit.edu	37	4	42618092	42618092	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr4:42618092G>C	ENST00000381668.5	-	5	598	c.367C>G	c.(367-369)Cga>Gga	p.R123G	ATP8A1_ENST00000264449.10_Missense_Mutation_p.R123G	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	123					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GCTTTATGTCGTTTCTAAAGT	0.299																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(367-369)Cga>Gga		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						171.0	163.0	166.0					4																	42618092		2200	4300	6500	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42618092G>C	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.367C>G	4.37:g.42618092G>C	ENSP00000371084:p.Arg123Gly					ATP8A1_ENST00000264449.10_Missense_Mutation_p.R123G	p.R123G	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			5	598	-			123					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.367C>G	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052996	0.55218	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	D;D	0.85629	-2.01;-2.01	5.96	5.96	0.96718	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.96137	0.8741	H	0.99800	4.79	0.80722	D	1	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.97110	0.982;1.0;1.0	D	0.97105	0.9800	10	0.72032	D	0.01	.	13.3173	0.60415	0.0:0.0:0.7407:0.2593	.	123;123;123	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	G	123	ENSP00000371084:R123G;ENSP00000264449:R123G	ENSP00000264449:R123G	R	-	1	2	ATP8A1	42312849	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	4.497000	0.60367	2.831000	0.97527	0.650000	0.86243	CGA		0.299	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		13	38	0	0	0	1	0	13	38				
ZNF789	285989	broad.mit.edu	37	7	99084134	99084134	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr7:99084134C>A	ENST00000331410.5	+	5	571	c.301C>A	c.(301-303)Cca>Aca	p.P101T	ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAAGCTAACTCCAAAACAGAA	0.343																																						ENST00000331410.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11						c.(301-303)Cca>Aca		zinc finger protein 789							40.0	43.0	42.0					7																	99084134		2203	4300	6503	SO:0001583	missense	285989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:99084134C>A	AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.301C>A	7.37:g.99084134C>A	ENSP00000331927:p.Pro101Thr					ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	p.P101T	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN			5	571	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		101					A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	ENST00000331410.5	37	c.301C>A	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	C	0.726	-0.781622	0.02929	.	.	ENSG00000198556	ENST00000331410	T	0.05081	3.5	2.8	-1.69	0.08186	.	.	.	.	.	T	0.03959	0.0111	L	0.33485	1.01	0.09310	N	1	B	0.30068	0.267	B	0.25291	0.059	T	0.42361	-0.9456	9	0.29301	T	0.29	.	3.4587	0.07524	0.0:0.3621:0.2053:0.4326	.	101	Q5FWF6	ZN789_HUMAN	T	101	ENSP00000331927:P101T	ENSP00000331927:P101T	P	+	1	0	ZNF789	98922070	0.001000	0.12720	0.004000	0.12327	0.041000	0.13682	0.202000	0.17295	-0.414000	0.07495	-0.827000	0.03088	CCA		0.343	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		12	33	1	0	1.52009e-12	1	1.82252e-12	12	33				
SERINC5	256987	broad.mit.edu	37	5	79446773	79446773	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr5:79446773T>A	ENST00000507668.2	-	9	1137		c.e9-2		SERINC5_ENST00000512721.1_Splice_Site|SERINC5_ENST00000512972.2_Splice_Site|SERINC5_ENST00000509193.1_Splice_Site	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5						myelination (GO:0042552)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GATGTCAAACTAAGAAACAGA	0.483																																						ENST00000507668.2																			0				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8						c.e9-2		serine incorporator 5							108.0	107.0	107.0					5																	79446773		2009	4160	6169	SO:0001630	splice_region_variant	256987				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane		g.chr5:79446773T>A	AF498273	CCDS54874.1	5q14.1	2014-01-28	2005-10-14	2005-10-14		ENSG00000164300			18825	protein-coding gene	gene with protein product		614551	"""chromosome 5 open reading frame 12"""	C5orf12		12688535	Standard	NM_178276		Approved	TPO1	uc011ctj.2	Q86VE9		ENST00000507668.2:c.987-2A>T	5.37:g.79446773T>A						SERINC5_ENST00000509193.1_Splice_Site|SERINC5_ENST00000512721.1_Splice_Site|SERINC5_ENST00000512972.2_Splice_Site		NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)	9	1137	-		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)						B4DMH7|Q495A4|Q495A6	Splice_Site	SNP	ENST00000507668.2	37		CCDS54873.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.610702	0.66558	.	.	ENSG00000164300	ENST00000507668;ENST00000329637;ENST00000509193;ENST00000512972;ENST00000512721	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0754	0.59083	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SERINC5	79482529	1.000000	0.71417	0.973000	0.42090	0.730000	0.41778	5.010000	0.64004	2.179000	0.69175	0.533000	0.62120	.		0.483	SERINC5-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_178276	Intron	6	218	0	0	0	1	0	6	218				
MYO3B	140469	broad.mit.edu	37	2	171256785	171256785	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:171256785G>A	ENST00000408978.4	+	17	2022	c.1879G>A	c.(1879-1881)Gat>Aat	p.D627N	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.D627N|MYO3B_ENST00000334231.6_Missense_Mutation_p.D636N	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	627	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ACATCAGACTGATAAAAGTGA	0.418																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(1906-1908)Gat>Aat		myosin IIIB							178.0	162.0	167.0					2																	171256785		1858	4107	5965	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171256785G>A		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1879G>A	2.37:g.171256785G>A	ENSP00000386213:p.Asp627Asn					MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.D627N|MYO3B_ENST00000409044.3_Missense_Mutation_p.D627N	p.D636N			Q8WXR4	MYO3B_HUMAN			17	1906	+			627			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.1906G>A	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	G	34	5.405188	0.96051	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	6.03	6.03	0.97812	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.86260	0.5890	M	0.84219	2.685	0.80722	D	1	D;P;D	0.89917	1.0;0.729;1.0	D;B;D	0.85130	0.997;0.316;0.996	D	0.84935	0.0862	10	0.45353	T	0.12	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	627;627;627	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	N	627;627;626;636;636	ENSP00000386497:D627N;ENSP00000386213:D627N;ENSP00000446237:D636N;ENSP00000335100:D636N	ENSP00000314213:D626N	D	+	1	0	MYO3B	170965031	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	GAT		0.418	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			9	408	0	0	0	1	0	9	408				
ABHD4	63874	broad.mit.edu	37	14	23072464	23072464	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr14:23072464C>T	ENST00000428304.2	+	3	352	c.282C>T	c.(280-282)cgC>cgT	p.R94R	ABHD4_ENST00000544562.1_3'UTR	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	94					lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		TGAGTGCCCGCCGCACACTGC	0.612																																						ENST00000428304.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14						c.(280-282)cgC>cgT		abhydrolase domain containing 4							41.0	39.0	39.0					14																	23072464		2203	4300	6503	SO:0001819	synonymous_variant	63874				lipid catabolic process		hydrolase activity	g.chr14:23072464C>T	AK022878	CCDS9572.1	14q11.1	2006-10-06			ENSG00000100439	ENSG00000100439		"""Abhydrolase domain containing"""	20154	protein-coding gene	gene with protein product							Standard	NM_022060		Approved	FLJ12816	uc001wgm.3	Q8TB40	OTTHUMG00000028686	ENST00000428304.2:c.282C>T	14.37:g.23072464C>T						ABHD4_ENST00000544562.1_3'UTR	p.R94R	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN		GBM - Glioblastoma multiforme(265;0.0153)	3	352	+	all_cancers(95;5.49e-05)		94					B4DDH7|Q9H9E0	Silent	SNP	ENST00000428304.2	37	c.282C>T	CCDS9572.1																																																																																				0.612	ABHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071623.3			3	126	0	0	0	1	0	3	126				
TCF20	6942	broad.mit.edu	37	22	42608900	42608900	+	Silent	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr22:42608900C>A	ENST00000359486.3	-	1	2548	c.2412G>T	c.(2410-2412)ctG>ctT	p.L804L	TCF20_ENST00000335626.4_Silent_p.L804L|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	804					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TGCTTTTGTTCAGAAGGCCCC	0.478																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(2410-2412)ctG>ctT		transcription factor 20 (AR1)							62.0	59.0	60.0					22																	42608900		2203	4300	6503	SO:0001819	synonymous_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42608900C>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.2412G>T	22.37:g.42608900C>A						TCF20_ENST00000335626.4_Silent_p.L804L	p.L804L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	2548	-			804					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	c.2412G>T	CCDS14033.1																																																																																				0.478	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		4	47	1	0	0.014758	1	0.0152922	4	47				
LARS	51520	broad.mit.edu	37	5	145551555	145551555	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr5:145551555T>A	ENST00000394434.2	-	4	380		c.e4-2		LARS_ENST00000510191.1_Splice_Site|LARS_ENST00000274562.9_Intron|LARS_ENST00000545646.1_Splice_Site|LARS_ENST00000511505.1_Splice_Site	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase						gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TACAGCAAACTACAGaaataa	0.333																																						ENST00000394434.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34						c.e4-2		leucyl-tRNA synthetase	L-Leucine(DB00149)						68.0	67.0	67.0					5																	145551555		2203	4300	6503	SO:0001630	splice_region_variant	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145551555T>A	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.214-2A>T	5.37:g.145551555T>A						LARS_ENST00000511505.1_Splice_Site|LARS_ENST00000274562.9_Intron|LARS_ENST00000510191.1_Splice_Site|LARS_ENST00000545646.1_Splice_Site		NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	380	-								A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Splice_Site	SNP	ENST00000394434.2	37		CCDS34265.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.219768	0.79464	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000360930	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6804	0.77364	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LARS	145531748	1.000000	0.71417	0.978000	0.43139	0.830000	0.47004	7.524000	0.81866	2.101000	0.63845	0.460000	0.39030	.		0.333	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117	Intron	5	66	0	0	0	1	0	5	66				
RGS8	85397	broad.mit.edu	37	1	182617279	182617279	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:182617279G>A	ENST00000483095.2	-	6	610	c.353C>T	c.(352-354)cCa>cTa	p.P118L	RGS8_ENST00000367557.4_Missense_Mutation_p.P118L|RGS8_ENST00000367556.1_Missense_Mutation_p.P118L|RGS8_ENST00000258302.4_Missense_Mutation_p.P136L			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	118	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						CACCTCCCGTGGAGCCTGCAC	0.532																																					Ovarian(189;1262 3804 41973)	ENST00000483095.2																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						c.(352-354)cCa>cTa		regulator of G-protein signaling 8							143.0	132.0	136.0					1																	182617279		2203	4300	6503	SO:0001583	missense	85397				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:182617279G>A	AF297015	CCDS1349.1, CCDS41443.1	1q25	2008-07-18	2007-08-14		ENSG00000135824	ENSG00000135824		"""Regulators of G-protein signaling"""	16810	protein-coding gene	gene with protein product		607189	"""regulator of G-protein signalling 8"""			11318611	Standard	NM_001102450		Approved	MGC119067, MGC119068, MGC119069	uc001gpm.1	P57771	OTTHUMG00000035219	ENST00000483095.2:c.353C>T	1.37:g.182617279G>A	ENSP00000426289:p.Pro118Leu					RGS8_ENST00000258302.4_Missense_Mutation_p.P136L|RGS8_ENST00000367557.4_Missense_Mutation_p.P118L|RGS8_ENST00000367556.1_Missense_Mutation_p.P118L	p.P118L			P57771	RGS8_HUMAN			6	610	-			118			RGS.		B4DGL9|Q3SYD2	Missense_Mutation	SNP	ENST00000483095.2	37	c.353C>T	CCDS41443.1	.	.	.	.	.	.	.	.	.	.	G	31	5.096152	0.94197	.	.	ENSG00000135824	ENST00000483095;ENST00000258302;ENST00000367557;ENST00000367556	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.51	5.51	0.81932	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.66386	0.2784	M	0.85099	2.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.71361	-0.4616	10	0.72032	D	0.01	.	19.0644	0.93104	0.0:0.0:1.0:0.0	.	118;136	P57771;P57771-2	RGS8_HUMAN;.	L	118;136;118;118	ENSP00000426289:P118L;ENSP00000258302:P136L;ENSP00000356528:P118L;ENSP00000356527:P118L	ENSP00000258302:P136L	P	-	2	0	RGS8	180883902	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	7.325000	0.79124	2.595000	0.87683	0.558000	0.71614	CCA		0.532	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358979.1	NM_033345		32	165	0	0	0	1	0	32	165				
LARS2	23395	broad.mit.edu	37	3	45537772	45537772	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:45537772A>G	ENST00000415258.1	+	13	1670	c.1529A>G	c.(1528-1530)aAg>aGg	p.K510R	LARS2_ENST00000265537.3_Missense_Mutation_p.K510R|LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000414984.1_Missense_Mutation_p.K467R			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	510					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CTTAGGTGCAAGGGAGCAGCC	0.363																																						ENST00000415258.1																			0				endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1528-1530)aAg>aGg		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)						159.0	154.0	156.0					3																	45537772		2203	4300	6503	SO:0001583	missense	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45537772A>G	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.1529A>G	3.37:g.45537772A>G	ENSP00000408576:p.Lys510Arg					LARS2_ENST00000414984.1_Missense_Mutation_p.K467R|LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000265537.3_Missense_Mutation_p.K510R	p.K510R			Q15031	SYLM_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	13	1670	+			510						Missense_Mutation	SNP	ENST00000415258.1	37	c.1529A>G	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.178018	0.78564	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	T;T;T	0.76448	-1.02;-1.02;-1.02	5.49	5.49	0.81192	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.157299	0.56097	D	0.000036	T	0.80037	0.4550	M	0.72576	2.205	0.41153	D	0.98604	P;B	0.37061	0.58;0.437	B;B	0.43445	0.42;0.254	T	0.82440	-0.0456	10	0.87932	D	0	-18.749	11.5725	0.50843	0.8509:0.1491:0.0:0.0	.	467;510	E9PHM2;Q15031	.;SYLM_HUMAN	R	510;510;467	ENSP00000265537:K510R;ENSP00000408576:K510R;ENSP00000412893:K467R	ENSP00000265537:K510R	K	+	2	0	LARS2	45512776	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.256000	0.51492	2.085000	0.62840	0.528000	0.53228	AAG		0.363	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		72	97	0	0	0	1	0	72	97				
ERICH6	131831	broad.mit.edu	37	3	150404112	150404112	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:150404112G>A	ENST00000295910.6	-	4	635	c.583C>T	c.(583-585)Cct>Tct	p.P195S	FAM194A_ENST00000491361.1_Missense_Mutation_p.P49S	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGACATTCAGGTTCAGCTTTC	0.388																																						ENST00000295910.6																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(583-585)Cct>Tct		family with sequence similarity 194, member A							143.0	140.0	141.0					3																	150404112		2203	4300	6503	SO:0001583	missense	131831							g.chr3:150404112G>A																												ENST00000295910.6:c.583C>T	3.37:g.150404112G>A	ENSP00000295910:p.Pro195Ser					FAM194A_ENST00000491361.1_Missense_Mutation_p.P49S	p.P195S	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN			4	635	-			195						Missense_Mutation	SNP	ENST00000295910.6	37	c.583C>T	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	G	7.131	0.579930	0.13686	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.14144	2.71;2.53	3.41	0.518	0.17030	.	0.828030	0.10150	N	0.709670	T	0.08758	0.0217	L	0.40543	1.245	0.09310	N	1	B	0.22909	0.077	B	0.23275	0.045	T	0.43893	-0.9363	10	0.09084	T	0.74	-0.5384	3.7466	0.08551	0.2368:0.204:0.5591:0.0	.	195	Q7L0X2	F194A_HUMAN	S	195;49;153	ENSP00000295910:P195S;ENSP00000419366:P49S	ENSP00000295910:P195S	P	-	1	0	FAM194A	151886802	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.024000	0.12435	0.090000	0.17273	0.491000	0.48974	CCT		0.388	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			25	121	0	0	0	1	0	25	121				
NRDE2	55051	broad.mit.edu	37	14	90759177	90759177	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr14:90759177A>T	ENST00000354366.3	-	9	1938	c.1706T>A	c.(1705-1707)aTa>aAa	p.I569K	NRDE2_ENST00000357904.3_Missense_Mutation_p.I338K	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	569																	CTTATCTTTTATTTCCTGGTC	0.512																																						ENST00000354366.3																			0											c.(1705-1707)aTa>aAa		NRDE-2, necessary for RNA interference, domain containing							176.0	163.0	167.0					14																	90759177		2203	4300	6503	SO:0001583	missense	55051							g.chr14:90759177A>T	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.1706T>A	14.37:g.90759177A>T	ENSP00000346335:p.Ile569Lys					NRDE2_ENST00000357904.3_Missense_Mutation_p.I338K	p.I569K	NM_017970.3	NP_060440.2					9	1938	-								B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	c.1706T>A	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.695027	0.48202	.	.	ENSG00000119720	ENST00000354366;ENST00000357904;ENST00000554464	T;T	0.33216	1.42;1.42	5.46	5.46	0.80206	.	0.179711	0.47455	D	0.000226	T	0.53417	0.1795	M	0.81497	2.545	0.80722	D	1	D	0.61697	0.99	P	0.58660	0.843	T	0.57763	-0.7755	10	0.48119	T	0.1	-14.3295	15.5434	0.76074	1.0:0.0:0.0:0.0	.	569	Q9H7Z3	CN102_HUMAN	K	569;338;148	ENSP00000346335:I569K;ENSP00000350579:I338K	ENSP00000346335:I569K	I	-	2	0	C14orf102	89828930	1.000000	0.71417	0.111000	0.21465	0.290000	0.27261	6.994000	0.76251	2.064000	0.61679	0.533000	0.62120	ATA		0.512	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		5	245	0	0	0	1	0	5	245				
C8A	731	broad.mit.edu	37	1	57351601	57351601	+	Splice_Site	SNP	A	A	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:57351601A>C	ENST00000361249.3	+	7	953	c.857A>C	c.(856-858)aAa>aCa	p.K286T		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	286	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGCTGGCAGAAATTCATTTTC	0.393																																						ENST00000361249.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.e7-1		complement component 8, alpha polypeptide							54.0	54.0	54.0					1																	57351601		2203	4300	6503	SO:0001630	splice_region_variant	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57351601A>C	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.856-1A>C	1.37:g.57351601A>C							p.K286_splice	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			7	953	+			286			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Splice_Site	SNP	ENST00000361249.3	37	c.855_splice	CCDS606.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.403810	0.25291	.	.	ENSG00000157131	ENST00000361249	D	0.85411	-1.98	5.95	2.26	0.28386	Membrane attack complex component/perforin (MACPF) domain (2);	0.487586	0.26887	N	0.021993	D	0.83769	0.5326	M	0.77103	2.36	0.22050	N	0.999399	P	0.39424	0.673	B	0.39706	0.307	T	0.74028	-0.3796	10	0.39692	T	0.17	-9.6949	10.4056	0.44254	0.8179:0.0:0.1821:0.0	.	286	P07357	CO8A_HUMAN	T	286	ENSP00000354458:K286T	ENSP00000354458:K286T	K	+	2	0	C8A	57124189	0.741000	0.28217	0.992000	0.48379	0.095000	0.18619	1.988000	0.40697	0.483000	0.27608	0.460000	0.39030	AAA		0.393	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562	Missense_Mutation	12	69	0	0	0	1	0	12	69				
EDNRB	1910	broad.mit.edu	37	13	78477314	78477314	+	Missense_Mutation	SNP	C	C	A	rs77132068	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr13:78477314C>A	ENST00000334286.5	-	3	1014	c.778G>T	c.(778-780)Gtt>Ttt	p.V260F	EDNRB_ENST00000377211.4_Missense_Mutation_p.V350F|EDNRB_ENST00000446573.1_Missense_Mutation_p.V260F	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	260					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	GTCTTCTGAACGGGATGAAGC	0.408													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20053	0.0		0.001	False		,,,				2504	0.0					ENST00000377211.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42						c.(1048-1050)Gtt>Ttt		endothelin receptor type B	Bosentan(DB00559)	C	PHE/VAL,PHE/VAL,PHE/VAL,PHE/VAL	0,4406		0,0,2203	127.0	128.0	128.0		778,778,1048,778	0.3	0.0	13	dbSNP_131	128	19,8581	13.3+/-46.6	0,19,4281	yes	missense,missense,missense,missense	EDNRB	NM_000115.3,NM_001122659.2,NM_001201397.1,NM_003991.3	50,50,50,50	0,19,6484	AA,AC,CC		0.2209,0.0,0.1461	benign,benign,benign,benign	260/443,260/443,350/533,260/437	78477314	19,12987	2203	4300	6503	SO:0001583	missense	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78477314C>A	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.778G>T	13.37:g.78477314C>A	ENSP00000335311:p.Val260Phe					EDNRB_ENST00000446573.1_Missense_Mutation_p.V260F|EDNRB_ENST00000334286.5_Missense_Mutation_p.V260F	p.V350F	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	4	1200	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	260					A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	c.1048G>T	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	C	0.271	-0.992745	0.02162	0.0	0.002209	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.72505	-0.66;-0.66;-0.66	5.62	0.295	0.15752	GPCR, rhodopsin-like superfamily (1);	0.448229	0.28257	N	0.016005	T	0.44074	0.1276	N	0.21282	0.65	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.15052	0.007;0.009;0.012	T	0.13764	-1.0497	10	0.09338	T	0.73	-0.6465	1.8191	0.03106	0.1214:0.2116:0.126:0.5409	.	260;350;260	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	F	350;260;260	ENSP00000366416:V350F;ENSP00000403401:V260F;ENSP00000335311:V260F	ENSP00000335311:V260F	V	-	1	0	EDNRB	77375315	0.000000	0.05858	0.007000	0.13788	0.559000	0.35586	0.083000	0.14871	-0.160000	0.11002	-0.312000	0.09012	GTT		0.408	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			52	121	1	0	2.3318e-11	1	2.76195e-11	52	121				
OS9	10956	broad.mit.edu	37	12	58089814	58089814	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr12:58089814C>T	ENST00000315970.7	+	4	514	c.473C>T	c.(472-474)aCa>aTa	p.T158I	OS9_ENST00000439210.2_Missense_Mutation_p.T99I|OS9_ENST00000389142.5_Missense_Mutation_p.T158I|OS9_ENST00000435406.2_Intron|OS9_ENST00000257966.8_Missense_Mutation_p.T158I|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000551035.1_Missense_Mutation_p.T158I|OS9_ENST00000552285.1_Missense_Mutation_p.T158I|OS9_ENST00000389146.6_Missense_Mutation_p.T158I|OS9_ENST00000413095.2_Intron	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	158	PRKCSH.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GATGATGAAACAGCCAAGGTG	0.507																																						ENST00000315970.7																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21						c.(472-474)aCa>aTa		osteosarcoma amplified 9, endoplasmic reticulum lectin							74.0	68.0	70.0					12																	58089814		2203	4300	6503	SO:0001583	missense	10956				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding	g.chr12:58089814C>T	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.473C>T	12.37:g.58089814C>T	ENSP00000318165:p.Thr158Ile					OS9_ENST00000552285.1_Missense_Mutation_p.T158I|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000435406.2_Intron|OS9_ENST00000413095.2_Intron|OS9_ENST00000551035.1_Missense_Mutation_p.T158I|OS9_ENST00000389142.5_Missense_Mutation_p.T158I|OS9_ENST00000389146.6_Missense_Mutation_p.T158I|OS9_ENST00000257966.8_Missense_Mutation_p.T158I|OS9_ENST00000439210.2_Missense_Mutation_p.T99I	p.T158I	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		4	514	+	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		158			PRKCSH.		A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	ENST00000315970.7	37	c.473C>T	CCDS31843.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365203	0.82463	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000551035;ENST00000257966;ENST00000389142	T;T;T;T;T;T;T	0.26810	1.72;1.72;1.73;1.72;3.76;1.72;1.71	5.28	4.33	0.51752	Glucosidase II beta subunit-like (1);	0.105896	0.64402	D	0.000006	T	0.41259	0.1151	L	0.56280	1.765	0.50171	D	0.999859	D;D;D;D;D;D;D	0.89917	0.976;0.96;0.997;0.968;0.998;0.999;1.0	P;P;D;P;D;D;D	0.77557	0.601;0.663;0.977;0.773;0.987;0.987;0.99	T	0.07809	-1.0753	10	0.37606	T	0.19	-7.4057	9.5804	0.39484	0.1579:0.6889:0.1531:0.0	.	99;158;158;158;158;158;158	E7EW91;F8VUH2;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;OS9_HUMAN	I	158;158;99;158;158;158;158	ENSP00000450010:T158I;ENSP00000318165:T158I;ENSP00000407360:T99I;ENSP00000373798:T158I;ENSP00000447866:T158I;ENSP00000257966:T158I;ENSP00000373794:T158I	ENSP00000257966:T158I	T	+	2	0	OS9	56376081	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.971000	0.56831	2.475000	0.83589	0.591000	0.81541	ACA		0.507	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408344.1	NM_006812		14	458	0	0	0	1	0	14	458				
ZNF45	7596	broad.mit.edu	37	19	44426347	44426347	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr19:44426347C>A	ENST00000269973.5	-	0	1081				RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_De_novo_Start_OutOfFrame	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45						gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TTTTGTCCTCCTCCTTCTGGA	0.408																																						ENST00000269973.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17								zinc finger protein 45							87.0	74.0	79.0					19																	44426347		2203	4300	6503			7596				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44426347C>A	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.-10G>T	19.37:g.44426347C>A						ZNF45_ENST00000589703.1_De_novo_Start_OutOfFrame|RP11-15A1.2_ENST00000586247.1_RNA		NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN			0	1081	-								P17016|P78472|Q9P1U9	Translation_Start_Site	SNP	ENST00000269973.5	37		CCDS12632.1																																																																																				0.408	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		13	137	1	0	0.0202918	1	0.0209316	13	137				
ZNF783	100289678	broad.mit.edu	37	7	148963912	148963912	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr7:148963912G>A	ENST00000434415.1	+	3	586	c.423G>A	c.(421-423)gtG>gtA	p.V141V		NM_001195220.1	NP_001182149.1	Q6ZMS7	ZN783_HUMAN	zinc finger family member 783	141					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GGTTCCAGGTGCCCGTGACCT	0.622																																						ENST00000434415.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22						c.(421-423)gtG>gtA		zinc finger family member 783							231.0	217.0	222.0					7																	148963912		2203	4300	6503	SO:0001819	synonymous_variant	100289678				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr7:148963912G>A	AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000434415.1:c.423G>A	7.37:g.148963912G>A							p.V141V	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0014)		3	586	+	Melanoma(164;0.15)		141					C9J9J2	Silent	SNP	ENST00000434415.1	37	c.423G>A	CCDS56519.1																																																																																				0.622	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352715.1	NM_001195220		62	645	0	0	0	1	0	62	645				
RFX7	64864	broad.mit.edu	37	15	56388271	56388271	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:56388271C>T	ENST00000559447.2	-	9	1635	c.1364G>A	c.(1363-1365)tGc>tAc	p.C455Y	RFX7_ENST00000423270.1_Missense_Mutation_p.C552Y|RFX7_ENST00000317318.6_Missense_Mutation_p.C552Y|RFX7_ENST00000422057.1_Missense_Mutation_p.C455Y			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	455					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GTTCTCTTGGCACTGTACAGG	0.512																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1654-1656)tGc>tAc		regulatory factor X, 7							58.0	55.0	56.0					15																	56388271		1960	4139	6099	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56388271C>T			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1364G>A	15.37:g.56388271C>T	ENSP00000453281:p.Cys455Tyr					RFX7_ENST00000559447.2_Missense_Mutation_p.C455Y|RFX7_ENST00000317318.6_Missense_Mutation_p.C552Y|RFX7_ENST00000422057.1_Missense_Mutation_p.C455Y	p.C552Y	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			9	1654	-			455					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.1655G>A		.	.	.	.	.	.	.	.	.	.	C	14.36	2.513252	0.44660	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.53423	0.62;0.62;0.62	5.09	5.09	0.68999	.	0.075153	0.56097	D	0.000029	T	0.37489	0.1005	N	0.19112	0.55	0.50467	D	0.999873	P;P	0.34462	0.454;0.454	B;B	0.34722	0.188;0.188	T	0.37911	-0.9685	10	0.59425	D	0.04	-1.3726	17.4716	0.87647	0.0:1.0:0.0:0.0	.	455;455	Q2KHR2;C9JU50	RFX7_HUMAN;.	Y	455;552;552	ENSP00000387504:C455Y;ENSP00000313299:C552Y;ENSP00000397644:C552Y	ENSP00000313299:C552Y	C	-	2	0	RFX7	54175563	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.671000	0.54576	2.336000	0.79503	0.655000	0.94253	TGC		0.512	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		6	54	0	0	0	1	0	6	54				
HAL	3034	broad.mit.edu	37	12	96387718	96387718	+	Missense_Mutation	SNP	A	A	T	rs150136984	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr12:96387718A>T	ENST00000261208.3	-	6	838	c.470T>A	c.(469-471)aTa>aAa	p.I157K	HAL_ENST00000538703.1_Missense_Mutation_p.I157K|HAL_ENST00000541929.1_5'UTR|RP11-256L6.3_ENST00000551849.1_RNA	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	157					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TTTCTCTTTTATGATGCTATC	0.338																																					NSCLC(169;943 2815 23563 30031)	ENST00000261208.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34						c.(469-471)aTa>aAa		histidine ammonia-lyase	L-Histidine(DB00117)						88.0	91.0	90.0					12																	96387718		2203	4300	6503	SO:0001583	missense	3034				biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	g.chr12:96387718A>T		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.470T>A	12.37:g.96387718A>T	ENSP00000261208:p.Ile157Lys					HAL_ENST00000541929.1_5'UTR|HAL_ENST00000538703.1_Missense_Mutation_p.I157K	p.I157K	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN			6	838	-			157					B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	c.470T>A	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.675724	0.47781	.	.	ENSG00000084110	ENST00000261208;ENST00000538703;ENST00000552509;ENST00000546579	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.21	5.21	0.72293	L-Aspartase-like (1);L-Aspartase-like, N-terminal (1);	0.305293	0.32287	N	0.006306	D	0.84629	0.5514	M	0.72894	2.215	0.80722	D	1	B;B	0.29955	0.006;0.263	B;P	0.46850	0.019;0.529	D	0.85532	0.1210	10	0.87932	D	0	-0.2843	15.3779	0.74625	1.0:0.0:0.0:0.0	.	157;157	F5GXF2;P42357	.;HUTH_HUMAN	K	157;157;157;67	ENSP00000261208:I157K;ENSP00000440861:I157K;ENSP00000450372:I157K;ENSP00000447543:I67K	ENSP00000261208:I157K	I	-	2	0	HAL	94911849	1.000000	0.71417	0.090000	0.20809	0.111000	0.19643	8.910000	0.92685	2.098000	0.63641	0.459000	0.35465	ATA		0.338	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1			8	196	0	0	0	1	0	8	196				
DSCAM	1826	broad.mit.edu	37	21	41648022	41648022	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr21:41648022A>T	ENST00000400454.1	-	11	2834		c.e11+1			NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule						cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTTCTCTCTTACTTTTAACCG	0.448																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.e11+1		Down syndrome cell adhesion molecule							95.0	98.0	97.0					21																	41648022		2013	4216	6229	SO:0001630	splice_region_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41648022A>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2356+1T>A	21.37:g.41648022A>T								NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			11	2834	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)						O60468	Splice_Site	SNP	ENST00000400454.1	37		CCDS42929.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.930316	0.92389	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1193	0.81336	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DSCAM	40569892	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.228000	0.95250	2.204000	0.70986	0.528000	0.53228	.		0.448	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389	Intron	6	146	0	0	0	1	0	6	146				
SLC9A8	23315	broad.mit.edu	37	20	48479596	48479596	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr20:48479596T>G	ENST00000361573.2	+	9	886	c.844T>G	c.(844-846)Tct>Gct	p.S282A	SLC9A8_ENST00000541138.1_Intron|SLC9A8_ENST00000417961.1_Missense_Mutation_p.S298A|SLC9A8_ENST00000539601.1_Missense_Mutation_p.S63A			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	282					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TGGCTTAATTTCTGCATTAAT	0.418																																						ENST00000417961.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(892-894)Tct>Gct		solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8							76.0	73.0	74.0					20																	48479596		2203	4300	6503	SO:0001583	missense	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48479596T>G	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.844T>G	20.37:g.48479596T>G	ENSP00000354966:p.Ser282Ala					SLC9A8_ENST00000539601.1_Missense_Mutation_p.S63A|SLC9A8_ENST00000361573.2_Missense_Mutation_p.S282A|SLC9A8_ENST00000541138.1_Intron	p.S298A	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		9	1102	+			282					B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	ENST00000361573.2	37	c.892T>G	CCDS13421.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.378504	0.61735	.	.	ENSG00000197818	ENST00000417961;ENST00000361573;ENST00000539601	T;T;T	0.14516	2.5;2.5;2.5	5.39	5.39	0.77823	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.14874	0.0359	L	0.39326	1.205	0.80722	D	1	B	0.19073	0.033	B	0.27262	0.078	T	0.04976	-1.0914	10	0.30854	T	0.27	.	15.4123	0.74937	0.0:0.0:0.0:1.0	.	282	Q9Y2E8	SL9A8_HUMAN	A	298;282;63	ENSP00000416418:S298A;ENSP00000354966:S282A;ENSP00000441716:S63A	ENSP00000354966:S282A	S	+	1	0	SLC9A8	47913003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.538000	0.82048	2.023000	0.59567	0.460000	0.39030	TCT		0.418	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		32	58	0	0	0	1	0	32	58				
SH2D6	284948	broad.mit.edu	37	2	85662808	85662808	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:85662808G>A	ENST00000340326.2	+	3	433	c.272G>A	c.(271-273)cGc>cAc	p.R91H	SH2D6_ENST00000389938.2_Missense_Mutation_p.R59H|Y_RNA_ENST00000384478.1_RNA|SH2D6_ENST00000481426.2_3'UTR	NM_198482.1	NP_940884.1	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	91	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									central_nervous_system(1)|lung(2)	3						TATACCGTGCGCCCCAGCTCA	0.652																																						ENST00000389938.2																			0				central_nervous_system(1)|lung(2)	3						c.(175-177)cGc>cAc		SH2 domain containing 6							39.0	43.0	42.0					2																	85662808		2203	4300	6503	SO:0001583	missense	284948							g.chr2:85662808G>A	AF450483	CCDS1976.1	2p11.2	2013-02-14			ENSG00000152292	ENSG00000152292		"""SH2 domain containing"""	30439	protein-coding gene	gene with protein product						12477932	Standard	NM_198482		Approved	FLJ35993	uc002spq.3	Q7Z4S9	OTTHUMG00000130176	ENST00000340326.2:c.272G>A	2.37:g.85662808G>A	ENSP00000341867:p.Arg91His					SH2D6_ENST00000481426.2_3'UTR|SH2D6_ENST00000340326.2_Missense_Mutation_p.R91H	p.R59H			Q7Z4S9	SH2D6_HUMAN			19	1490	+			91					A6ND14|Q6R306	Missense_Mutation	SNP	ENST00000340326.2	37	c.176G>A	CCDS1976.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686379	0.88639	.	.	ENSG00000152292	ENST00000389938;ENST00000340326	D;D	0.99292	-5.7;-5.7	4.87	4.87	0.63330	SH2 motif (4);	0.000000	0.64402	D	0.000006	D	0.99560	0.9842	H	0.95437	3.67	0.50467	D	0.999874	D	0.89917	1.0	D	0.91635	0.999	D	0.97981	1.0349	10	0.87932	D	0	-34.5067	13.5201	0.61563	0.0:0.0:1.0:0.0	.	91	Q7Z4S9	SH2D6_HUMAN	H	59;91	ENSP00000374588:R59H;ENSP00000341867:R91H	ENSP00000341867:R91H	R	+	2	0	SH2D6	85516319	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	6.340000	0.72973	2.256000	0.74724	0.462000	0.41574	CGC		0.652	SH2D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252493.2	NM_198482		3	17	0	0	0	1	0	3	17				
FCGBP	8857	broad.mit.edu	37	19	40408735	40408735	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr19:40408735G>A	ENST00000221347.6	-	8	4111	c.4104C>T	c.(4102-4104)taC>taT	p.Y1368Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1368	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACACAAGGTCGTAGGCCACAC	0.587																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(4102-4104)taC>taT		Fc fragment of IgG binding protein							83.0	71.0	75.0					19																	40408735		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40408735G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.4104C>T	19.37:g.40408735G>A							p.Y1368Y	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		8	4111	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		1368			VWFD 3.		O95784	Silent	SNP	ENST00000221347.6	37	c.4104C>T	CCDS12546.1																																																																																				0.587	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		17	198	0	0	0	1	0	17	198				
SMG6	23293	broad.mit.edu	37	17	2203642	2203642	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:2203642G>T	ENST00000263073.6	-	2	455	c.405C>A	c.(403-405)atC>atA	p.I135I	SMG6_ENST00000544865.1_Silent_p.I104I	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	135	EJC-binding motif 2; mediates interaction with the EJC.|Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTGTTCTTTTGATAATTTTTA	0.468																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(310-312)atC>atA		SMG6 nonsense mediated mRNA decay factor							127.0	141.0	136.0					17																	2203642		2203	4300	6503	SO:0001819	synonymous_variant	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2203642G>T	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.405C>A	17.37:g.2203642G>T						SMG6_ENST00000263073.5_Silent_p.I135I	p.I104I			Q86US8	EST1A_HUMAN			2	822	-			135					B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	c.312C>A	CCDS11016.1																																																																																				0.468	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			4	156	1	0	0.000602214	1	0.000644426	4	156				
TIPIN	54962	broad.mit.edu	37	15	66641437	66641437	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:66641437C>G	ENST00000261881.4	-	6	521	c.436G>C	c.(436-438)Gat>Cat	p.D146H	SCARNA14_ENST00000516903.1_RNA|Y_RNA_ENST00000411339.1_RNA|TIPIN_ENST00000367709.4_Missense_Mutation_p.D45H	NM_017858.2	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	146					cell cycle phase transition (GO:0044770)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|regulation of nuclear cell cycle DNA replication (GO:0033262)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						ATAGGGAGATCAAGTCGAATT	0.294																																						ENST00000261881.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						c.(436-438)Gat>Cat		TIMELESS interacting protein							62.0	65.0	64.0					15																	66641437		2201	4299	6500	SO:0001583	missense	54962				cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding	g.chr15:66641437C>G	BK001386	CCDS10215.1	15q22.31	2012-03-02	2006-08-08		ENSG00000075131	ENSG00000075131			30750	protein-coding gene	gene with protein product	"""CSM3 homolog (S. cerevisiae)"""	610716				12875843, 17102137	Standard	NM_017858		Approved	FLJ20516	uc002apr.2	Q9BVW5	OTTHUMG00000133188	ENST00000261881.4:c.436G>C	15.37:g.66641437C>G	ENSP00000261881:p.Asp146His					TIPIN_ENST00000367709.4_Missense_Mutation_p.D45H	p.D146H	NM_017858.2	NP_060328.2	Q9BVW5	TIPIN_HUMAN			6	521	-			146					B2CW64|Q9NWZ6	Missense_Mutation	SNP	ENST00000261881.4	37	c.436G>C	CCDS10215.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209300	0.58343	.	.	ENSG00000075131	ENST00000367709;ENST00000261881	T;T	0.47177	0.85;0.85	5.11	5.11	0.69529	Replication fork protection component Swi3 (2);	0.000000	0.85682	D	0.000000	T	0.45975	0.1369	L	0.37561	1.115	0.80722	D	1	B	0.33477	0.413	B	0.38616	0.277	T	0.50303	-0.8844	10	0.72032	D	0.01	-36.7419	17.4806	0.87672	0.0:1.0:0.0:0.0	.	146	Q9BVW5	TIPIN_HUMAN	H	45;146	ENSP00000356682:D45H;ENSP00000261881:D146H	ENSP00000261881:D146H	D	-	1	0	TIPIN	64428491	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.760000	0.74939	2.539000	0.85634	0.555000	0.69702	GAT		0.294	TIPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256897.2	NM_017858		3	14	0	0	0	1	0	3	14				
RANBP2	5903	broad.mit.edu	37	2	109378555	109378555	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:109378555A>T	ENST00000283195.6	+	19	2728		c.e19-1			NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTGTTTTTTTAGTTGCAACTA	0.333																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.e19-1		RAN binding protein 2							91.0	100.0	97.0					2																	109378555		931	2027	2958	SO:0001630	splice_region_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109378555A>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2603-1A>T	2.37:g.109378555A>T								NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			19	2728	+								Q13074|Q15280|Q53TE2|Q59FH7	Splice_Site	SNP	ENST00000283195.6	37		CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294558	0.81025	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3858	0.74699	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RANBP2	108744987	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.847000	0.75404	2.088000	0.63022	0.455000	0.32223	.		0.333	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	Intron	3	32	0	0	0	1	0	3	32				
CTAGE9	643854	broad.mit.edu	37	6	132031797	132031797	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:132031797C>A	ENST00000314099.8	-	1	409	c.361G>T	c.(361-363)Gca>Tca	p.A121S	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	121						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						TCTTCTGCTGCCGCCTTCTCA	0.398																																						ENST00000314099.8																			0				endometrium(1)|lung(1)	2						c.(361-363)Gca>Tca		CTAGE family, member 9							2.0	2.0	2.0					6																	132031797		555	1207	1762	SO:0001583	missense	643854					integral to membrane		g.chr6:132031797C>A		CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.361G>T	6.37:g.132031797C>A	ENSP00000395587:p.Ala121Ser					ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron	p.A121S	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN			1	409	-			121						Missense_Mutation	SNP	ENST00000314099.8	37	c.361G>T	CCDS47475.1	.	.	.	.	.	.	.	.	.	.	-	0.776	-0.764177	0.02996	.	.	ENSG00000236761	ENST00000314099	T	0.37411	1.2	.	.	.	.	.	.	.	.	T	0.05456	0.0144	N	0.13140	0.3	0.09310	N	1	B	0.14438	0.01	B	0.15484	0.013	T	0.43814	-0.9368	6	0.12430	T	0.62	.	.	.	.	.	121	A4FU28	CTGE9_HUMAN	S	121	ENSP00000395587:A121S	ENSP00000395587:A121S	A	-	1	0	CTAGE9	132073490	0.010000	0.17322	.	.	.	.	-0.311000	0.08124	.	.	.	.	GCA		0.398	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109220.1	NM_001145659		4	147	1	0	0.00198382	1	0.00209352	4	147				
SLC13A1	6561	broad.mit.edu	37	7	122769435	122769435	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr7:122769435A>T	ENST00000194130.2	-	9	1071		c.e9+1		SLC13A1_ENST00000539873.1_Splice_Site	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	tgtttgtCTTACCTTATTGGC	0.408																																						ENST00000194130.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45						c.e9+1		solute carrier family 13 (sodium/sulfate symporter), member 1	Succinic acid(DB00139)						211.0	163.0	179.0					7																	122769435		2203	4300	6503	SO:0001630	splice_region_variant	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122769435A>T		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1031+1T>A	7.37:g.122769435A>T						SLC13A1_ENST00000539873.1_Splice_Site		NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN			9	1071	-								Q9H5Z0	Splice_Site	SNP	ENST00000194130.2	37		CCDS5786.1	.	.	.	.	.	.	.	.	.	.	A	17.68	3.450122	0.63290	.	.	ENSG00000081800	ENST00000194130	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1252	0.72478	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC13A1	122556671	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	6.445000	0.73456	2.170000	0.68504	0.379000	0.24179	.		0.408	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444	Intron	6	183	0	0	0	1	0	6	183				
TSEN2	80746	broad.mit.edu	37	3	12546651	12546651	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:12546651A>T	ENST00000284995.6	+	6	1218		c.e6-1		TSEN2_ENST00000415684.1_Intron|TSEN2_ENST00000444864.1_Intron|TSEN2_ENST00000314571.7_Intron|TSEN2_ENST00000454502.2_Splice_Site|TSEN2_ENST00000402228.3_Splice_Site|TSEN2_ENST00000383797.5_Splice_Site	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit						mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						CTTTCTCTTTAGTTGGTGCAA	0.299																																						ENST00000284995.6																			0				central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						c.e6-1		TSEN2 tRNA splicing endonuclease subunit							80.0	81.0	81.0					3																	12546651		2203	4300	6503	SO:0001630	splice_region_variant	80746				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr3:12546651A>T	BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"""tRNA splicing endonuclease subunits"""	28422	protein-coding gene	gene with protein product		608753	"""tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)"", ""tRNA splicing endonuclease 2 homolog (S. cerevisiae)"""			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.832-1A>T	3.37:g.12546651A>T						TSEN2_ENST00000454502.2_Splice_Site|TSEN2_ENST00000402228.3_Splice_Site|TSEN2_ENST00000314571.7_Intron|TSEN2_ENST00000444864.1_Intron|TSEN2_ENST00000415684.1_Intron|TSEN2_ENST00000383797.5_Splice_Site		NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN			6	1218	+								B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Splice_Site	SNP	ENST00000284995.6	37		CCDS2611.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.587881	0.66105	.	.	ENSG00000154743	ENST00000446004;ENST00000454502;ENST00000383797;ENST00000402228;ENST00000284995;ENST00000537959	.	.	.	5.23	4.07	0.47477	.	.	.	.	.	.	.	.	.	.	.	0.34266	D	0.680472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.5866	0.27995	0.9035:0.0:0.0965:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TSEN2	12521651	0.993000	0.37304	0.025000	0.17156	0.924000	0.55760	3.752000	0.55172	0.845000	0.35118	0.459000	0.35465	.		0.299	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	NM_025265	Intron	4	26	0	0	0	1	0	4	26				
FAM86DP	692099	broad.mit.edu	37	3	75478338	75478338	+	RNA	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:75478338T>C	ENST00000459803.1	-	0	327					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		TCAGGGTCTCTGCCAGTGCCT	0.557																																						ENST00000459803.1																			0																																																			692099							g.chr3:75478338T>C	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75478338T>C								NR_024241.1						0	327	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.557	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		4	67	0	0	0	1	0	4	67				
GMDS	2762	broad.mit.edu	37	6	2116073	2116073	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:2116073G>T	ENST00000380815.4	-	4	546	c.277C>A	c.(277-279)Ctt>Att	p.L93I	GMDS_ENST00000530927.1_Missense_Mutation_p.L63I	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	93					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		ATCTTCACAAGGCAGGTACTG	0.413																																						ENST00000380815.4																		GMDS/PDE8B(2)	0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21						c.(277-279)Ctt>Att		GDP-mannose 4,6-dehydratase							186.0	173.0	178.0					6																	2116073		2203	4300	6503	SO:0001583	missense	2762				'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	g.chr6:2116073G>T	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.277C>A	6.37:g.2116073G>T	ENSP00000370194:p.Leu93Ile					GMDS_ENST00000530927.1_Missense_Mutation_p.L63I	p.L93I	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)	4	546	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	93					E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	ENST00000380815.4	37	c.277C>A	CCDS4474.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107955	0.77096	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	D;D	0.94184	-3.37;-3.37	5.64	5.64	0.86602	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95915	0.8670	M	0.72479	2.2	0.80722	D	1	D	0.54207	0.965	D	0.63957	0.92	D	0.95710	0.8757	10	0.66056	D	0.02	-14.8703	19.7154	0.96115	0.0:0.0:1.0:0.0	.	93	O60547	GMDS_HUMAN	I	63;93	ENSP00000436726:L63I;ENSP00000370194:L93I	ENSP00000370194:L93I	L	-	1	0	GMDS	2061072	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.597000	0.61062	2.664000	0.90586	0.655000	0.94253	CTT		0.413	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3			10	334	1	0	0.00136819	1	0.00145729	10	334				
MPRIP	23164	broad.mit.edu	37	17	17064559	17064559	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:17064559G>C	ENST00000341712.4	+	15	2052	c.2052G>C	c.(2050-2052)gaG>gaC	p.E684D	MPRIP_ENST00000395811.5_Missense_Mutation_p.E684D|MPRIP_ENST00000395804.3_Missense_Mutation_p.E684D|MPRIP_ENST00000444976.1_Missense_Mutation_p.E646D			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	684	Interaction with RHOA.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AACAGCTGGAGCAGAGCCAGA	0.567																																						ENST00000395811.5																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(2050-2052)gaG>gaC		myosin phosphatase Rho interacting protein							27.0	27.0	27.0					17																	17064559		2203	4300	6503	SO:0001583	missense	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17064559G>C	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2052G>C	17.37:g.17064559G>C	ENSP00000342379:p.Glu684Asp					MPRIP_ENST00000395804.3_Missense_Mutation_p.E684D|MPRIP_ENST00000444976.1_Missense_Mutation_p.E646D|MPRIP_ENST00000341712.4_Missense_Mutation_p.E684D	p.E684D	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN			15	2141	+			684			Interaction with RHOA.		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	c.2052G>C	CCDS32578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.22|17.22	3.335228|3.335228	0.60853|0.60853	.|.	.|.	ENSG00000133030|ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712|ENST00000423885	T;T;T;T|.	0.27557|.	1.66;1.99;2.0;2.0|.	5.32|5.32	2.85|2.85	0.33270|0.33270	.|.	.|.	.|.	.|.	.|.	T|T	0.33000|0.33000	0.0848|0.0848	N|N	0.08118|0.08118	0|0	0.48632|0.48632	D|D	0.999687|0.999687	D;P|.	0.76494|.	0.999;0.924|.	D;P|.	0.77557|.	0.99;0.452|.	T|T	0.05131|0.05131	-1.0904|-1.0904	9|5	0.51188|.	T|.	0.08|.	.|.	10.3773|10.3773	0.44090|0.44090	0.1847:0.0:0.8153:0.0|0.1847:0.0:0.8153:0.0	.|.	684;684|.	Q6WCQ1-2;Q6WCQ1|.	.;MPRIP_HUMAN|.	D|T	646;684;684;684|171	ENSP00000400189:E646D;ENSP00000379156:E684D;ENSP00000379149:E684D;ENSP00000342379:E684D|.	ENSP00000342379:E684D|.	E|S	+|+	3|2	2|0	MPRIP|MPRIP	17005284|17005284	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.736000|0.736000	0.42039|0.42039	1.829000|1.829000	0.39121|0.39121	0.634000|0.634000	0.30469|0.30469	-0.251000|-0.251000	0.11542|0.11542	GAG|AGC		0.567	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		15	9	0	0	0	1	0	15	9				
TEC	7006	broad.mit.edu	37	4	48151675	48151675	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr4:48151675A>T	ENST00000381501.3	-	11	1062	c.905T>A	c.(904-906)aTa>aAa	p.I302K	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	302	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TGTTTCCTTTATATGATAATG	0.333																																						ENST00000381501.3																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(904-906)aTa>aAa		tec protein tyrosine kinase							172.0	166.0	168.0					4																	48151675		2203	4300	6503	SO:0001583	missense	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48151675A>T	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.905T>A	4.37:g.48151675A>T	ENSP00000370912:p.Ile302Lys					TEC_ENST00000511471.2_5'UTR	p.I302K	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN			11	1062	-			302			SH2.		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	c.905T>A	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.881116	0.91740	.	.	ENSG00000135605	ENST00000381501	D	0.96522	-4.04	5.8	5.8	0.92144	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.98773	0.9587	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99712	1.1007	10	0.87932	D	0	.	16.1606	0.81704	1.0:0.0:0.0:0.0	.	302	P42680	TEC_HUMAN	K	302	ENSP00000370912:I302K	ENSP00000370912:I302K	I	-	2	0	TEC	47846432	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.307000	0.96226	2.227000	0.72691	0.460000	0.39030	ATA		0.333	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			4	80	0	0	0	1	0	4	80				
SLC4A7	9497	broad.mit.edu	37	3	27427422	27427422	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:27427422C>T	ENST00000295736.5	-	23	3496	c.3426G>A	c.(3424-3426)aaG>aaA	p.K1142K	SLC4A7_ENST00000435667.2_Silent_p.K1027K|SLC4A7_ENST00000388777.4_Silent_p.K692K|SLC4A7_ENST00000428386.1_Silent_p.K1018K|SLC4A7_ENST00000437179.1_Silent_p.K1023K|SLC4A7_ENST00000446700.1_Silent_p.K1134K|SLC4A7_ENST00000440156.1_Silent_p.K1138K|SLC4A7_ENST00000454389.1_Silent_p.K1151K|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000445684.1_Silent_p.K1138K|SLC4A7_ENST00000455077.1_Silent_p.K1023K	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1142					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	ctttctttttcttactttctG	0.323																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(3424-3426)aaG>aaA		solute carrier family 4, sodium bicarbonate cotransporter, member 7							80.0	88.0	85.0					3																	27427422		2203	4300	6503	SO:0001819	synonymous_variant	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27427422C>T	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.3426G>A	3.37:g.27427422C>T						SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000445684.1_Silent_p.K1138K|SLC4A7_ENST00000388777.4_Silent_p.K692K|SLC4A7_ENST00000455077.1_Silent_p.K1023K|SLC4A7_ENST00000446700.1_Silent_p.K1134K|SLC4A7_ENST00000428386.1_Silent_p.K1018K|SLC4A7_ENST00000440156.1_Silent_p.K1138K|SLC4A7_ENST00000437179.1_Silent_p.K1023K|SLC4A7_ENST00000454389.1_Silent_p.K1151K|SLC4A7_ENST00000435667.2_Silent_p.K1027K	p.K1142K	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN			23	3496	-			1142					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Silent	SNP	ENST00000295736.5	37	c.3426G>A	CCDS33721.1																																																																																				0.323	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		5	84	0	0	0	1	0	5	84				
R3HCC1L	27291	broad.mit.edu	37	10	99991267	99991267	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr10:99991267A>T	ENST00000298999.3	+	6	2088		c.e6-1		R3HCC1L_ENST00000314594.5_Splice_Site|R3HCC1L_ENST00000370584.3_Splice_Site|R3HCC1L_ENST00000370586.2_Splice_Site	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like								nucleotide binding (GO:0000166)										CTTCCTTTCTAGTTATCAGGG	0.378																																						ENST00000314594.5																			0											c.e7-1		R3H domain and coiled-coil containing 1-like							95.0	87.0	90.0					10																	99991267		2203	4300	6503	SO:0001630	splice_region_variant	27291							g.chr10:99991267A>T	AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.1786-1A>T	10.37:g.99991267A>T						R3HCC1L_ENST00000298999.3_Splice_Site|R3HCC1L_ENST00000370586.2_Splice_Site|R3HCC1L_ENST00000370584.3_Splice_Site		NM_001256619.1	NP_001243548.1					7	2130	+								O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Splice_Site	SNP	ENST00000298999.3	37		CCDS31267.1	.	.	.	.	.	.	.	.	.	.	A	18.73	3.685861	0.68157	.	.	ENSG00000166024	ENST00000370584;ENST00000298999;ENST00000370586;ENST00000314594;ENST00000544834	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1559	0.72743	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C10orf28	99981257	1.000000	0.71417	0.997000	0.53966	0.846000	0.48090	4.807000	0.62576	2.214000	0.71695	0.533000	0.62120	.		0.378	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472	Intron	6	197	0	0	0	1	0	6	197				
RBM23	55147	broad.mit.edu	37	14	23374870	23374870	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr14:23374870T>A	ENST00000359890.3	-	6	597		c.e6-2		RBM23_ENST00000555209.1_Intron|RBM23_ENST00000556984.1_5'Flank|RBM23_ENST00000346528.5_Intron|RBM23_ENST00000399922.2_Splice_Site|RBM23_ENST00000542016.2_Splice_Site	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23						mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TACCTATAACTAAAGAATAGA	0.398																																						ENST00000359890.3																			0				endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10						c.e6-2		RNA binding motif protein 23							62.0	54.0	57.0					14																	23374870		1844	4094	5938	SO:0001630	splice_region_variant	55147				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr14:23374870T>A	AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"""RNA binding motif (RRM) containing"""	20155	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen recep- tors beta"""		"""RNA-binding region (RNP1, RRM) containing 4"""	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.402-2A>T	14.37:g.23374870T>A						RBM23_ENST00000346528.5_Intron|RBM23_ENST00000542016.2_Splice_Site|RBM23_ENST00000555209.1_Intron|RBM23_ENST00000399922.2_Splice_Site		NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN		GBM - Glioblastoma multiforme(265;0.0128)	6	597	-	all_cancers(95;4.69e-05)							D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Splice_Site	SNP	ENST00000359890.3	37		CCDS41921.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.257327	0.39896	.	.	ENSG00000100461	ENST00000359890;ENST00000338980;ENST00000399922	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8912	0.63740	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RBM23	22444710	0.981000	0.34729	0.241000	0.24154	0.005000	0.04900	3.891000	0.56227	2.179000	0.69175	0.533000	0.62120	.		0.398	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413545.3		Intron	4	67	0	0	0	1	0	4	67				
AARS2	57505	broad.mit.edu	37	6	44270864	44270864	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:44270864G>A	ENST00000244571.4	-	16	2196	c.2194C>T	c.(2194-2196)Cat>Tat	p.H732Y	RP11-444E17.6_ENST00000505802.1_Intron|AARS2_ENST00000491573.1_5'Flank|TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCAATGCATGGGCCACGGGC	0.622																																						ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(2194-2196)Cat>Tat		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						58.0	61.0	60.0					6																	44270864		2203	4300	6503	SO:0001583	missense	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44270864G>A	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2194C>T	6.37:g.44270864G>A	ENSP00000244571:p.His732Tyr					TMEM151B_ENST00000438774.2_Intron	p.H732Y	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		16	2196	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		732						Missense_Mutation	SNP	ENST00000244571.4	37	c.2194C>T	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	G	8.194	0.796621	0.16327	.	.	ENSG00000124608	ENST00000244571	T	0.63417	-0.04	5.26	1.17	0.20885	Threonyl/alanyl tRNA synthetase, SAD (2);Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	1.775510	0.02325	N	0.073357	T	0.20373	0.0490	N	0.08118	0	0.21579	N	0.999638	B	0.24721	0.11	B	0.28991	0.097	T	0.32903	-0.9889	10	0.87932	D	0	9.0639	1.2403	0.01961	0.172:0.2247:0.3873:0.216	.	732	Q5JTZ9	SYAM_HUMAN	Y	732	ENSP00000244571:H732Y	ENSP00000244571:H732Y	H	-	1	0	AARS2	44378842	0.544000	0.26441	0.379000	0.26080	0.062000	0.15995	1.605000	0.36815	0.370000	0.24538	-0.150000	0.13652	CAT		0.622	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		4	60	0	0	0	1	0	4	60				
WARS	7453	broad.mit.edu	37	14	100828168	100828168	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr14:100828168G>T	ENST00000355338.2	-	3	808	c.190C>A	c.(190-192)Cca>Aca	p.P64T	WARS_ENST00000392882.2_Missense_Mutation_p.P64T|WARS_ENST00000557135.1_Missense_Mutation_p.P64T|WARS_ENST00000344102.5_Missense_Mutation_p.P23T|WARS_ENST00000556645.1_Missense_Mutation_p.P23T|WARS_ENST00000358655.4_Missense_Mutation_p.P23T|WARS_ENST00000554084.1_5'UTR	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	64	WHEP-TRS. {ECO:0000255|PROSITE- ProRule:PRU00531}.				angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	GGGTTCCCTGGAGGACAGTCA	0.493																																						ENST00000355338.2																			0				breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(190-192)Cca>Aca		tryptophanyl-tRNA synthetase	L-Tryptophan(DB00150)						199.0	189.0	192.0					14																	100828168		2203	4300	6503	SO:0001583	missense	7453				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	g.chr14:100828168G>T	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12729	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 1, cytoplasmic"""	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.190C>A	14.37:g.100828168G>T	ENSP00000347495:p.Pro64Thr					WARS_ENST00000554084.1_5'UTR|WARS_ENST00000557135.1_Missense_Mutation_p.P64T|WARS_ENST00000358655.4_Missense_Mutation_p.P23T|WARS_ENST00000556645.1_Missense_Mutation_p.P23T|WARS_ENST00000392882.2_Missense_Mutation_p.P64T|WARS_ENST00000344102.5_Missense_Mutation_p.P23T	p.P64T	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN			3	808	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	64			WHEP-TRS.		A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	ENST00000355338.2	37	c.190C>A	CCDS9960.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.721753	0.48728	.	.	ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645;ENST00000553395;ENST00000556504;ENST00000557722;ENST00000557297;ENST00000556435;ENST00000556338;ENST00000556698;ENST00000553524;ENST00000555410;ENST00000554772;ENST00000556660;ENST00000553413;ENST00000553769;ENST00000553545;ENST00000554820;ENST00000554509;ENST00000556209;ENST00000554605	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47528	0.84;0.96;0.84;0.96;0.84;0.96;0.88;0.87;0.84;0.91;0.91;0.91;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.91	5.91	0.95273	WHEP-TRS (2);S15/NS1, RNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.46946	0.1419	L	0.48877	1.53	0.80722	D	1	B	0.13594	0.008	B	0.16289	0.015	T	0.26744	-1.0094	10	0.44086	T	0.13	-1.3921	20.2985	0.98592	0.0:0.0:1.0:0.0	.	64	P23381	SYWC_HUMAN	T	64;23;64;23;64;23;23;23;64;23;23;23;64;64;98;64;64;64;64;64;64;98;64;64	ENSP00000376620:P64T;ENSP00000351481:P23T;ENSP00000347495:P64T;ENSP00000339485:P23T;ENSP00000451460:P64T;ENSP00000451887:P23T;ENSP00000451490:P23T;ENSP00000451251:P23T;ENSP00000450500:P64T;ENSP00000451599:P23T;ENSP00000452519:P23T;ENSP00000451544:P23T;ENSP00000450427:P64T;ENSP00000451349:P64T;ENSP00000450934:P98T;ENSP00000451469:P64T;ENSP00000451402:P64T;ENSP00000452550:P64T;ENSP00000451906:P64T;ENSP00000451716:P64T;ENSP00000450563:P64T;ENSP00000451894:P98T;ENSP00000451027:P64T;ENSP00000450978:P64T	ENSP00000339485:P23T	P	-	1	0	WARS	99897921	1.000000	0.71417	0.972000	0.41901	0.194000	0.23727	7.504000	0.81646	2.793000	0.96121	0.655000	0.94253	CCA		0.493	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		13	341	1	0	1.5842e-08	1	1.81391e-08	13	341				
UTP11L	51118	broad.mit.edu	37	1	38484984	38484984	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:38484984T>A	ENST00000373014.4	+	6	557	c.496T>A	c.(496-498)Ttt>Att	p.F166I	UTP11L_ENST00000537711.1_Intron|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)	166					nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleolus (GO:0005730)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGACAGAGTCTTTAATAGGCC	0.423																																						ENST00000373014.4																			0				NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(496-498)Ttt>Att		UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)							107.0	112.0	110.0					1																	38484984		2203	4300	6503	SO:0001583	missense	51118				induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding	g.chr1:38484984T>A	AF151852	CCDS429.1	1p34.3	2014-03-06	2014-03-06		ENSG00000183520	ENSG00000183520			24329	protein-coding gene	gene with protein product		609440				11860508, 10810093	Standard	NM_016037		Approved	CGI-94	uc001ccn.4	Q9Y3A2	OTTHUMG00000004435	ENST00000373014.4:c.496T>A	1.37:g.38484984T>A	ENSP00000362105:p.Phe166Ile					UTP11L_ENST00000537711.1_Intron|UTP11L_ENST00000488453.1_3'UTR	p.F166I	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN			6	557	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	166					A8K785|B4DJC6|D3DPT7|Q5VT93|Q9BS98|Q9NS31	Missense_Mutation	SNP	ENST00000373014.4	37	c.496T>A	CCDS429.1	.	.	.	.	.	.	.	.	.	.	T	18.31	3.596613	0.66332	.	.	ENSG00000183520	ENST00000373014	.	.	.	5.8	5.8	0.92144	.	0.155260	0.64402	D	0.000013	T	0.57814	0.2079	L	0.49455	1.56	0.80722	D	1	B	0.27316	0.175	B	0.28465	0.09	T	0.53767	-0.8392	9	0.22706	T	0.39	-19.0294	16.1435	0.81544	0.0:0.0:0.0:1.0	.	166	Q9Y3A2	UTP11_HUMAN	I	166	.	ENSP00000362105:F166I	F	+	1	0	UTP11L	38257571	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.887000	0.75616	2.212000	0.71576	0.528000	0.53228	TTT		0.423	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012962.1	NM_016037		6	83	0	0	0	1	0	6	83				
CACNA1S	779	broad.mit.edu	37	1	201054102	201054102	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:201054102C>T	ENST00000362061.3	-	9	1434	c.1208G>A	c.(1207-1209)gGc>gAc	p.G403D	CACNA1S_ENST00000367338.3_Missense_Mutation_p.G403D	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	403					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTTGTTCAAGCCTGCAATTTC	0.532																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1207-1209)gGc>gAc		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						81.0	90.0	87.0					1																	201054102		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201054102C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1208G>A	1.37:g.201054102C>T	ENSP00000355192:p.Gly403Asp					CACNA1S_ENST00000367338.3_Missense_Mutation_p.G403D	p.G403D	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			9	1434	-			403					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.1208G>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931057	0.52866	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96136	-3.92;-3.83	5.17	5.17	0.71159	.	1.015390	0.07898	N	0.972252	D	0.94788	0.8317	L	0.58925	1.835	0.43830	D	0.996406	B	0.21520	0.057	B	0.22152	0.038	D	0.86259	0.1654	10	0.44086	T	0.13	.	16.8283	0.85937	0.0:1.0:0.0:0.0	.	403	Q13698	CAC1S_HUMAN	D	403	ENSP00000355192:G403D;ENSP00000356307:G403D	ENSP00000355192:G403D	G	-	2	0	CACNA1S	199320725	1.000000	0.71417	0.996000	0.52242	0.928000	0.56348	5.257000	0.65473	2.398000	0.81561	0.573000	0.79308	GGC		0.532	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		4	166	0	0	0	1	0	4	166				
CRAMP1L	57585	broad.mit.edu	37	16	1718106	1718106	+	Silent	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr16:1718106C>A	ENST00000397412.3	+	18	3345	c.3246C>A	c.(3244-3246)ggC>ggA	p.G1082G	CRAMP1L_ENST00000293925.5_Silent_p.G1082G|CRAMP1L_ENST00000262317.4_Silent_p.G460G|CRAMP1L_ENST00000436138.3_Silent_p.G1079G|LA16c-431H6.6_ENST00000454337.1_3'UTR			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1082	Ser-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CCCTGCCCGGCCCACCTGAGG	0.617																																						ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(3244-3246)ggC>ggA		Crm, cramped-like (Drosophila)							58.0	60.0	60.0					16																	1718106		2149	4255	6404	SO:0001819	synonymous_variant	57585					nucleus	DNA binding	g.chr16:1718106C>A	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.3246C>A	16.37:g.1718106C>A						LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000293925.5_Silent_p.G1082G|CRAMP1L_ENST00000436138.3_Silent_p.G1079G|CRAMP1L_ENST00000262317.4_Silent_p.G460G	p.G1082G			Q96RY5	CRML_HUMAN			18	3345	+			1082			Ser-rich.		A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	ENST00000397412.3	37	c.3246C>A	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	C	8.298	0.819163	0.16607	.	.	ENSG00000007545	ENST00000415022	.	.	.	5.68	-2.84	0.05751	.	.	.	.	.	T	0.42404	0.1201	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36432	-0.9748	4	.	.	.	-36.0731	4.027	0.09692	0.14:0.4684:0.2494:0.1421	.	.	.	.	T	183	.	.	P	+	1	0	CRAMP1L	1658107	0.885000	0.30320	0.847000	0.33407	0.638000	0.38207	0.038000	0.13862	-0.204000	0.10235	0.650000	0.86243	CCC		0.617	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			18	312	1	0	0.00152264	1	0.00161428	18	312				
KRT74	121391	broad.mit.edu	37	12	52966408	52966408	+	Nonsense_Mutation	SNP	C	C	T	rs200761203		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr12:52966408C>T	ENST00000305620.2	-	2	562	c.515G>A	c.(514-516)tGg>tAg	p.W172*	KRT74_ENST00000549343.1_Nonsense_Mutation_p.W172*	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	172	Coil 1A.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CAGCAGCTCCCACTTGGTTTC	0.557																																						ENST00000549343.1																			0				kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(514-516)tGg>tAg		keratin 74							111.0	101.0	104.0					12																	52966408		2203	4300	6503	SO:0001587	stop_gained	121391					keratin filament	structural molecule activity	g.chr12:52966408C>T	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.515G>A	12.37:g.52966408C>T	ENSP00000307240:p.Trp172*					KRT74_ENST00000305620.2_Nonsense_Mutation_p.W172*	p.W172*			Q7RTS7	K2C74_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.191)	2	553	-			172			Coil 1A.|Rod.		B5MD61|Q86Y45	Nonsense_Mutation	SNP	ENST00000305620.2	37	c.515G>A	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	C	36	5.849807	0.97023	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	.	.	.	4.71	4.71	0.59529	.	0.000000	0.32987	N	0.005401	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5813	0.91172	0.0:1.0:0.0:0.0	.	.	.	.	X	172	.	ENSP00000307240:W172X	W	-	2	0	KRT74	51252675	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.388000	0.44398	2.553000	0.86117	0.650000	0.86243	TGG		0.557	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		3	66	0	0	0	1	0	3	66				
FNTB	2342	broad.mit.edu	37	14	65482384	65482384	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr14:65482384G>A	ENST00000246166.2	+	4	558	c.324G>A	c.(322-324)ctG>ctA	p.L108L	FNTB_ENST00000555742.1_3'UTR|CHURC1-FNTB_ENST00000549987.1_Silent_p.L143L|FNTB_ENST00000542227.1_Silent_p.L62L|FNTB_ENST00000447296.2_Silent_p.L142L|MAX_ENST00000341653.2_Intron|AL139022.1_ENST00000577601.1_RNA	NM_002028.3	NP_002019.1	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	108					negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ATTGGATCCTGCACAGCTTGG	0.493																																						ENST00000246166.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(322-324)ctG>ctA		farnesyltransferase, CAAX box, beta							124.0	108.0	113.0					14																	65482384		2203	4300	6503	SO:0001819	synonymous_variant	2342							g.chr14:65482384G>A		CCDS9769.1	14q23.3	2011-09-28			ENSG00000257365	ENSG00000257365			3785	protein-coding gene	gene with protein product		134636				8276393	Standard	NM_002028		Approved	FPTB		P49356	OTTHUMG00000142811	ENST00000246166.2:c.324G>A	14.37:g.65482384G>A						MAX_ENST00000341653.2_Intron|FNTB_ENST00000555742.1_3'UTR|CHURC1-FNTB_ENST00000542227.1_Silent_p.L62L|CHURC1-FNTB_ENST00000447296.2_Silent_p.L142L|CHURC1-FNTB_ENST00000448390.2_5'UTR	p.L108L	NM_002028.3	NP_002019.1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)	4	558	+								B2RDX6|B4E1A0	Silent	SNP	ENST00000246166.2	37	c.324G>A	CCDS9769.1																																																																																				0.493	FNTB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000286392.1	NM_002028		5	208	0	0	0	1	0	5	208				
MSANTD4	84437	broad.mit.edu	37	11	105880839	105880839	+	Splice_Site	SNP	T	T	A	rs200213533		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:105880839T>A	ENST00000301919.4	-	3	1878		c.e3-2		MSANTD4_ENST00000529805.1_5'Flank	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils							nucleus (GO:0005634)											AATTTCAAACTAAGAGCAAAG	0.368																																						ENST00000301919.4																			0											c.e3-2		Myb/SANT-like DNA-binding domain containing 4 with coiled-coils							57.0	60.0	59.0					11																	105880839		2201	4299	6500	SO:0001630	splice_region_variant	84437					nucleus		g.chr11:105880839T>A	AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"""KIAA1826"""	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.463-2A>T	11.37:g.105880839T>A								NM_032424.1	NP_115800.1	Q8NCY6	K1826_HUMAN			3	1878	-								Q96JK1|Q96JZ3|Q9H2N4	Splice_Site	SNP	ENST00000301919.4	37		CCDS31663.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.782076	0.49891	.	.	ENSG00000170903	ENST00000301919;ENST00000530788	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8906	0.79293	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1826	105386049	0.999000	0.42202	0.992000	0.48379	0.784000	0.44337	3.595000	0.54016	2.160000	0.67779	0.402000	0.26972	.		0.368	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388619.1	NM_032424	Intron	7	123	0	0	0	1	0	7	123				
DPPA2	151871	broad.mit.edu	37	3	109023492	109023492	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:109023492G>A	ENST00000478945.1	-	7	930	c.684C>T	c.(682-684)ggC>ggT	p.G228G		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	228					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGAGAAGTCTGCCATGGACCA	0.502																																						ENST00000478945.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(682-684)ggC>ggT		developmental pluripotency associated 2							69.0	64.0	66.0					3																	109023492		2203	4300	6503	SO:0001819	synonymous_variant	151871					nucleus	nucleic acid binding	g.chr3:109023492G>A	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.684C>T	3.37:g.109023492G>A							p.G228G	NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN			7	930	-			228					Q8WVF0	Silent	SNP	ENST00000478945.1	37	c.684C>T	CCDS2956.1																																																																																				0.502	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		4	83	0	0	0	1	0	4	83				
KRT28	162605	broad.mit.edu	37	17	38955746	38955746	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:38955746C>T	ENST00000306658.7	-	1	465	c.400G>A	c.(400-402)Gat>Aat	p.D134N		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TAGTCATGATCAAGTCCACGG	0.388																																					Melanoma(19;789 869 15380 26882 39836)	ENST00000306658.7																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(400-402)Gat>Aat		keratin 28							146.0	143.0	144.0					17																	38955746		2203	4300	6503	SO:0001583	missense	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38955746C>T	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.400G>A	17.37:g.38955746C>T	ENSP00000305263:p.Asp134Asn						p.D134N	NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN			1	465	-		Breast(137;0.000301)	134			Linker 1.|Rod.			Missense_Mutation	SNP	ENST00000306658.7	37	c.400G>A	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777088	0.49786	.	.	ENSG00000173908	ENST00000306658	D	0.83992	-1.79	5.19	5.19	0.71726	Filament (1);	0.094778	0.45606	D	0.000349	T	0.74359	0.3706	L	0.34521	1.04	0.38658	D	0.952009	B	0.17038	0.02	B	0.21151	0.033	T	0.72272	-0.4342	10	0.51188	T	0.08	.	10.0974	0.42484	0.0:0.9077:0.0:0.0923	.	134	Q7Z3Y7	K1C28_HUMAN	N	134	ENSP00000305263:D134N	ENSP00000305263:D134N	D	-	1	0	KRT28	36209272	0.002000	0.14202	0.993000	0.49108	0.856000	0.48823	0.956000	0.29202	2.596000	0.87737	0.655000	0.94253	GAT		0.388	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		35	223	0	0	0	1	0	35	223				
DIDO1	11083	broad.mit.edu	37	20	61528151	61528151	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr20:61528151T>C	ENST00000266070.4	-	7	2111	c.1786A>G	c.(1786-1788)Aag>Gag	p.K596E	DIDO1_ENST00000395335.2_Missense_Mutation_p.K596E|DIDO1_ENST00000395340.1_Missense_Mutation_p.K596E|DIDO1_ENST00000395343.1_Missense_Mutation_p.K596E	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	596					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CATGGCCTCTTGGGGATGGTG	0.587																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(1786-1788)Aag>Gag		death inducer-obliterator 1							68.0	69.0	69.0					20																	61528151		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61528151T>C	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1786A>G	20.37:g.61528151T>C	ENSP00000266070:p.Lys596Glu					DIDO1_ENST00000395343.1_Missense_Mutation_p.K596E|DIDO1_ENST00000395335.2_Missense_Mutation_p.K596E|DIDO1_ENST00000395340.1_Missense_Mutation_p.K596E	p.K596E	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			7	2111	-	Breast(26;5.68e-08)		596					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.1786A>G	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	T	18.60	3.659965	0.67586	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.13089	2.96;2.96;2.62;2.62	5.82	5.82	0.92795	.	0.000000	0.44902	D	0.000409	T	0.29620	0.0739	M	0.72894	2.215	0.80722	D	1	D;D	0.62365	0.971;0.991	P;P	0.53593	0.572;0.73	T	0.02339	-1.1174	10	0.72032	D	0.01	-48.2039	14.7533	0.69543	0.0:0.0:0.0:1.0	.	596;596	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	E	596	ENSP00000266070:K596E;ENSP00000378752:K596E;ENSP00000378749:K596E;ENSP00000378744:K596E	ENSP00000266070:K596E	K	-	1	0	DIDO1	60998596	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	2.575000	0.46025	2.225000	0.72522	0.460000	0.39030	AAG		0.587	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		7	419	0	0	0	1	0	7	419				
ARHGAP32	9743	broad.mit.edu	37	11	128840160	128840160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:128840160G>A	ENST00000310343.9	-	22	4905	c.4906C>T	c.(4906-4908)Cag>Tag	p.Q1636*	ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.Q1287*|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.Q1287*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1636	Interaction with GAB2.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGCTGAAGCTGAGTGACATGA	0.502																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(4906-4908)Cag>Tag		Rho GTPase activating protein 32							93.0	88.0	90.0					11																	128840160		2201	4297	6498	SO:0001587	stop_gained	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128840160G>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.4906C>T	11.37:g.128840160G>A	ENSP00000310561:p.Gln1636*					ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.Q1287*|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.Q1287*	p.Q1636*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			22	4905	-			1636			Interaction with GAB2.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Nonsense_Mutation	SNP	ENST00000310343.9	37	c.4906C>T	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	41	8.637801	0.98895	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.2033	0.98269	0.0:0.0:1.0:0.0	.	.	.	.	X	1636;1287;1287	.	ENSP00000310561:Q1636X	Q	-	1	0	ARHGAP32	128345370	1.000000	0.71417	0.990000	0.47175	0.882000	0.50991	9.422000	0.97458	2.779000	0.95612	0.655000	0.94253	CAG		0.502	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		9	36	0	0	0	1	0	9	36				
DEFB118	117285	broad.mit.edu	37	20	29960888	29960888	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr20:29960888T>A	ENST00000253381.2	+	2	320	c.287T>A	c.(286-288)gTa>gAa	p.V96E		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	96					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TACTTTGAAGTAAGCAGCAAG	0.458																																						ENST00000253381.2																			0				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14						c.(286-288)gTa>gAa		defensin, beta 118							110.0	104.0	106.0					20																	29960888		2203	4300	6503	SO:0001583	missense	117285				cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region		g.chr20:29960888T>A	AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"""Defensins, beta"""	16196	protein-coding gene	gene with protein product		607650	"""chromosome 20 open reading frame 63"""	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.287T>A	20.37:g.29960888T>A	ENSP00000253381:p.Val96Glu						p.V96E	NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	320	+	all_hematologic(12;0.158)		96					Q17RC4|Q8N691|Q9NUH0	Missense_Mutation	SNP	ENST00000253381.2	37	c.287T>A	CCDS13177.1	.	.	.	.	.	.	.	.	.	.	T	7.329	0.618579	0.14129	.	.	ENSG00000131068	ENST00000253381	T	0.10573	2.86	2.13	-1.87	0.07737	.	.	.	.	.	T	0.05410	0.0143	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41034	-0.9531	9	0.87932	D	0	.	0.2429	0.00194	0.2298:0.1538:0.235:0.3813	.	96	Q96PH6	DB118_HUMAN	E	96	ENSP00000253381:V96E	ENSP00000253381:V96E	V	+	2	0	DEFB118	29424549	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.014000	0.13333	-0.503000	0.06586	-1.437000	0.01076	GTA		0.458	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078501.2	NM_054112		6	360	0	0	0	1	0	6	360				
CDK5RAP3	80279	broad.mit.edu	37	17	46058627	46058627	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:46058627C>A	ENST00000338399.4	+	13	1488	c.1382C>A	c.(1381-1383)gCa>gAa	p.A461E	RP11-6N17.10_ENST00000578239.1_RNA|CDK5RAP3_ENST00000536708.2_Missense_Mutation_p.A486E|CDK5RAP3_ENST00000578663.1_3'UTR	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	461					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CAGCAGGAGGCACTTGAGGAG	0.567																																						ENST00000536708.2																			0				NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						c.(1456-1458)gCa>gAa		CDK5 regulatory subunit associated protein 3							44.0	47.0	46.0					17																	46058627		1982	4168	6150	SO:0001583	missense	80279				brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding	g.chr17:46058627C>A	AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"""ischemic heart CDK5 activator-binding protein C53"", ""LXXLL/leucine-zipper-containing ARFbinding protein"""	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.1382C>A	17.37:g.46058627C>A	ENSP00000344683:p.Ala461Glu					CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.A461E|CDK5RAP3_ENST00000578663.1_3'UTR|RP11-6N17.10_ENST00000578239.1_RNA	p.A486E	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN			13	1566	+			461					B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Missense_Mutation	SNP	ENST00000338399.4	37	c.1457C>A	CCDS42356.1	.	.	.	.	.	.	.	.	.	.	C	33	5.266078	0.95399	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	T;T	0.51071	0.72;0.72	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.70979	0.3286	M	0.87269	2.87	0.80722	D	1	D;D;D;D	0.62365	0.957;0.984;0.966;0.991	P;P;P;P	0.62560	0.845;0.861;0.904;0.833	T	0.71909	-0.4450	10	0.35671	T	0.21	-24.7275	18.2723	0.90072	0.0:1.0:0.0:0.0	.	486;374;461;236	F5H3I5;Q96JB5-2;Q96JB5;Q96JB5-3	.;.;CK5P3_HUMAN;.	E	486;461	ENSP00000438886:A486E;ENSP00000344683:A461E	ENSP00000344683:A461E	A	+	2	0	CDK5RAP3	43413626	1.000000	0.71417	0.940000	0.37924	0.943000	0.58893	7.111000	0.77077	2.612000	0.88384	0.655000	0.94253	GCA		0.567	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096		7	154	1	0	0.27861	1	0.27861	7	154				
ARHGEF10	9639	broad.mit.edu	37	8	1791575	1791575	+	Silent	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr8:1791575C>A	ENST00000398564.1	+	2	82	c.82C>A	c.(82-84)Cga>Aga	p.R28R	ARHGEF10_ENST00000262112.6_Silent_p.R28R|ARHGEF10_ENST00000398560.1_Silent_p.R28R|ARHGEF10_ENST00000349830.3_Silent_p.R4R|ARHGEF10_ENST00000520359.1_Silent_p.R4R|ARHGEF10_ENST00000518288.1_Silent_p.R28R			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	28					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CATGGACCAGCGAGAGCCCCT	0.582																																						ENST00000518288.1																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(82-84)Cga>Aga		Rho guanine nucleotide exchange factor (GEF) 10							51.0	43.0	46.0					8																	1791575		2203	4300	6503	SO:0001819	synonymous_variant	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1791575C>A	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.82C>A	8.37:g.1791575C>A						ARHGEF10_ENST00000262112.6_Silent_p.R28R|ARHGEF10_ENST00000398564.1_Silent_p.R28R|ARHGEF10_ENST00000349830.3_Silent_p.R4R|ARHGEF10_ENST00000520359.1_Silent_p.R4R|ARHGEF10_ENST00000398560.1_Silent_p.R28R	p.R28R			O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	3	245	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	28					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37	c.82C>A																																																																																					0.582	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				5	74	1	0	3.09899e-07	1	3.51321e-07	5	74				
TATDN1	83940	broad.mit.edu	37	8	125498070	125498070	+	IGR	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr8:125498070A>T	ENST00000276692.6	-	0	1018				RP11-158K1.3_ENST00000518639.1_RNA|RNF139_ENST00000303545.3_Splice_Site	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TCTTTCTTTTAGGTGTATTTG	0.328																																						ENST00000303545.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20						c.e2-1		ring finger protein 139							83.0	74.0	77.0					8																	125498070		2202	4300	6502	SO:0001628	intergenic_variant	11236				negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr8:125498070A>T	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125498070A>T								NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	553	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)							B2R5J0|Q8TD02|Q9BY40	Splice_Site	SNP	ENST00000276692.6	37		CCDS6351.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.349717	0.41599	.	.	ENSG00000170881	ENST00000303545	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1383	0.72586	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF139	125567251	1.000000	0.71417	0.985000	0.45067	0.270000	0.26580	8.566000	0.90734	2.025000	0.59659	0.528000	0.53228	.		0.328	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		4	106	0	0	0	1	0	4	106				
ATAD3B	83858	broad.mit.edu	37	1	1425751	1425751	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:1425751G>A	ENST00000308647.7	+	14	1568	c.1452G>A	c.(1450-1452)ctG>ctA	p.L484L		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	484						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGGAGCGCCTGGTGAGACTGC	0.592																																						ENST00000308647.7																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(1450-1452)ctG>ctA		ATPase family, AAA domain containing 3B							74.0	65.0	68.0					1																	1425751		2202	4299	6501	SO:0001819	synonymous_variant	83858						ATP binding|nucleoside-triphosphatase activity	g.chr1:1425751G>A	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"""ATPases / AAA-type"""	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1452G>A	1.37:g.1425751G>A							p.L484L	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	14	1568	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	484					A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Silent	SNP	ENST00000308647.7	37	c.1452G>A	CCDS30.1																																																																																				0.592	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		4	10	0	0	0	1	0	4	10				
BUB1B	701	broad.mit.edu	37	15	40476084	40476084	+	Splice_Site	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:40476084G>C	ENST00000287598.6	+	6	946	c.751G>C	c.(751-753)Gct>Cct	p.A251P	BUB1B_ENST00000412359.3_Splice_Site_p.A265P	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	251					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TGCTCTCAAGGGTAAGTTTGT	0.388			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													ENST00000287598.6			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	"""Mis, N, F, S"""	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36						c.e6+1		BUB1 mitotic checkpoint serine/threonine kinase B							72.0	68.0	70.0					15																	40476084		2203	4300	6503	SO:0001630	splice_region_variant	701	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40476084G>C	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.751+1G>C	15.37:g.40476084G>C						BUB1B_ENST00000412359.3_Splice_Site_p.A265_splice	p.A251_splice	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	6	946	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	251					B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Splice_Site	SNP	ENST00000287598.6	37	c.751_splice	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303593	0.40795	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.15603	2.41;2.43	5.31	3.41	0.39046	.	0.512295	0.20336	N	0.094332	T	0.13756	0.0333	L	0.48362	1.52	0.40286	D	0.978453	B;B	0.17038	0.019;0.02	B;B	0.16289	0.015;0.007	T	0.07908	-1.0748	10	0.40728	T	0.16	-2.2377	5.1962	0.15239	0.0738:0.2701:0.5168:0.1393	.	265;251	O60566-3;O60566	.;BUB1B_HUMAN	P	251;265;197	ENSP00000287598:A251P;ENSP00000398470:A265P	ENSP00000287598:A251P	A	+	1	0	BUB1B	38263376	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	1.520000	0.35899	0.612000	0.30071	0.491000	0.48974	GCT		0.388	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4		Missense_Mutation	11	48	0	0	0	1	0	11	48				
RPL27A	6157	broad.mit.edu	37	11	8707275	8707275	+	Silent	SNP	C	C	A	rs375338199		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:8707275C>A	ENST00000314138.6	+	5	772	c.369C>A	c.(367-369)atC>atA	p.I123I	RPL27A_ENST00000530913.1_Silent_p.I66I|SNORA3_ENST00000364113.1_RNA|RPL27A_ENST00000526562.1_Silent_p.I66I|RPL27A_ENST00000524496.1_Silent_p.I66I|SNORA45_ENST00000391305.1_RNA|RPL27A_ENST00000532359.1_Silent_p.I88I|RPL27A_ENST00000530022.1_Silent_p.I66I	NM_000990.4	NP_000981.1	P46776	RL27A_HUMAN	ribosomal protein L27a	123					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2				Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGCCTGTCATCGTGAAGGCCA	0.473																																						ENST00000314138.6																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						c.(367-369)atC>atA		ribosomal protein L27a							72.0	74.0	74.0					11																	8707275		2201	4296	6497	SO:0001819	synonymous_variant	6157				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr11:8707275C>A	U14968	CCDS7790.1	11p15	2011-04-06				ENSG00000166441		"""L ribosomal proteins"""	10329	protein-coding gene	gene with protein product		603637				7772601, 9582194	Standard	NM_000990		Approved	L27A	uc001mgs.4	P46776		ENST00000314138.6:c.369C>A	11.37:g.8707275C>A						RPL27A_ENST00000532359.1_Silent_p.I88I|RPL27A_ENST00000524496.1_Silent_p.I66I|RPL27A_ENST00000526562.1_Silent_p.I66I|RPL27A_ENST00000530913.1_Silent_p.I66I|RPL27A_ENST00000530022.1_Silent_p.I66I	p.I123I	NM_000990.4	NP_000981.1	P46776	RL27A_HUMAN		Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	5	772	+			123					B2R4B3	Silent	SNP	ENST00000314138.6	37	c.369C>A	CCDS7790.1																																																																																				0.473	RPL27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386506.1	NM_000990		10	180	1	0	0.000151284	1	0.000163416	10	180				
PDIA6	10130	broad.mit.edu	37	2	10927548	10927548	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:10927548G>T	ENST00000272227.3	-	11	1163	c.1016C>A	c.(1015-1017)gCt>gAt	p.A339D	PDIA6_ENST00000381611.4_Missense_Mutation_p.A344D|PDIA6_ENST00000404824.2_Missense_Mutation_p.A387D|PDIA6_ENST00000540494.1_Missense_Mutation_p.A336D|PDIA6_ENST00000404371.2_Missense_Mutation_p.A391D	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	339					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		CTGGGCTCCAGCTTCTGTCCA	0.468																																					GBM(73;509 1219 34219 41343 41551)	ENST00000404371.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18						c.(1171-1173)gCt>gAt		protein disulfide isomerase family A, member 6							70.0	73.0	72.0					2																	10927548		2203	4300	6503	SO:0001583	missense	10130				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr2:10927548G>T	BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"""Protein disulfide isomerases"""	30168	protein-coding gene	gene with protein product	"""protein disulfide isomerase-related protein"""	611099	"""thioredoxin domain containing 7 (protein disulfide isomerase)"", ""protein disulfide isomerase-associated 6"""	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.1016C>A	2.37:g.10927548G>T	ENSP00000272227:p.Ala339Asp					PDIA6_ENST00000381611.4_Missense_Mutation_p.A344D|PDIA6_ENST00000540494.1_Missense_Mutation_p.A336D|PDIA6_ENST00000272227.3_Missense_Mutation_p.A339D|PDIA6_ENST00000404824.2_Missense_Mutation_p.A387D	p.A391D			Q15084	PDIA6_HUMAN		Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)	13	1509	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		339					B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Missense_Mutation	SNP	ENST00000272227.3	37	c.1172C>A	CCDS1675.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174040	0.94807	.	.	ENSG00000143870	ENST00000272227;ENST00000404371;ENST00000404824;ENST00000540494;ENST00000381611	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	5.77	5.77	0.91146	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.52289	0.1725	M	0.89287	3.02	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;0.999	D;D;D;D	0.83275	0.974;0.991;0.991;0.996	T	0.57894	-0.7732	10	0.87932	D	0	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	336;387;391;339	B7Z254;B5MCQ5;Q15084-2;Q15084	.;.;.;PDIA6_HUMAN	D	339;391;387;336;344	ENSP00000272227:A339D;ENSP00000385385:A391D;ENSP00000384459:A387D;ENSP00000438778:A336D;ENSP00000371024:A344D	ENSP00000272227:A339D	A	-	2	0	PDIA6	10844999	1.000000	0.71417	0.998000	0.56505	0.828000	0.46876	7.858000	0.86971	2.885000	0.99019	0.655000	0.94253	GCT		0.468	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	NM_005742		23	67	1	0	1.1904e-30	1	1.47353e-30	23	67				
ZNF474	133923	broad.mit.edu	37	5	121488728	121488728	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr5:121488728T>G	ENST00000296600.4	+	2	1426	c.1043T>G	c.(1042-1044)aTt>aGt	p.I348S	CTC-441N14.2_ENST00000504829.1_RNA|CTC-441N14.1_ENST00000505209.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	348							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GATAAGGTAATTCATGCCACA	0.473																																						ENST00000296600.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21						c.(1042-1044)aTt>aGt		zinc finger protein 474							62.0	59.0	60.0					5																	121488728		2203	4300	6503	SO:0001583	missense	133923					intracellular	zinc ion binding	g.chr5:121488728T>G	AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"""Zinc fingers, C2H2-type"""	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.1043T>G	5.37:g.121488728T>G	ENSP00000296600:p.Ile348Ser					ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	p.I348S	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)	2	1426	+		all_cancers(142;0.229)|Prostate(80;0.0387)	348					A8K4M0|Q96M07	Missense_Mutation	SNP	ENST00000296600.4	37	c.1043T>G	CCDS4130.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.513252	0.00975	.	.	ENSG00000164185	ENST00000296600	T	0.50813	0.73	5.43	-1.19	0.09585	.	1.705140	0.04568	U	0.392818	T	0.28366	0.0701	N	0.24115	0.695	0.09310	N	0.999994	B	0.30793	0.295	B	0.30029	0.11	T	0.10314	-1.0635	10	0.07482	T	0.82	.	5.6419	0.17569	0.1381:0.413:0.0:0.4489	.	348	Q6S9Z5	ZN474_HUMAN	S	348	ENSP00000296600:I348S	ENSP00000296600:I348S	I	+	2	0	ZNF474	121516627	0.482000	0.25948	0.029000	0.17559	0.003000	0.03518	0.392000	0.20801	-0.449000	0.07117	-0.899000	0.02877	ATT		0.473	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250883.2	NM_207317		51	105	0	0	0	1	0	51	105				
C18orf25	147339	broad.mit.edu	37	18	43796531	43796531	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr18:43796531A>G	ENST00000282059.6	+	2	1059	c.685A>G	c.(685-687)Agc>Ggc	p.S229G	C18orf25_ENST00000321319.6_Missense_Mutation_p.S229G	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	229										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						GGTTTCAGGGAGCAGCAAGAC	0.433																																						ENST00000282059.6																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						c.(685-687)Agc>Ggc		chromosome 18 open reading frame 25							39.0	38.0	38.0					18																	43796531		1975	4178	6153	SO:0001583	missense	147339							g.chr18:43796531A>G	AL713661	CCDS42430.1, CCDS42431.1	18q21.1	2014-01-03			ENSG00000152242	ENSG00000152242			28172	protein-coding gene	gene with protein product	"""ARKadia-like 1"""					15722956	Standard	NM_001008239		Approved	MGC12909, ARKL1, RNF111L1	uc002lbw.3	Q96B23		ENST00000282059.6:c.685A>G	18.37:g.43796531A>G	ENSP00000282059:p.Ser229Gly					C18orf25_ENST00000321319.6_Missense_Mutation_p.S229G	p.S229G	NM_145055.3	NP_659492.1	Q96B23	CR025_HUMAN			2	1059	+			229					A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	Missense_Mutation	SNP	ENST00000282059.6	37	c.685A>G	CCDS42430.1	.	.	.	.	.	.	.	.	.	.	A	13.60	2.285976	0.40394	.	.	ENSG00000152242	ENST00000282059;ENST00000321319	.	.	.	5.59	5.59	0.84812	.	0.044471	0.85682	D	0.000000	T	0.56717	0.2004	L	0.38531	1.155	0.46654	D	0.999146	B;P	0.51240	0.002;0.943	B;P	0.48400	0.005;0.576	T	0.58645	-0.7600	9	0.48119	T	0.1	-6.9465	15.788	0.78322	1.0:0.0:0.0:0.0	.	229;229	Q96B23-2;Q96B23	.;CR025_HUMAN	G	229	.	ENSP00000282059:S229G	S	+	1	0	C18orf25	42050529	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.619000	0.74219	2.145000	0.66743	0.533000	0.62120	AGC		0.433	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445242.1	NM_145055		3	89	0	0	0	1	0	3	89				
CLSTN2	64084	broad.mit.edu	37	3	140275475	140275475	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:140275475C>T	ENST00000458420.3	+	11	1985	c.1795C>T	c.(1795-1797)Cgg>Tgg	p.R599W		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	599					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.R599W(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGCGGGTGTGCGGCGCCTCAA	0.577										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	ENST00000458420.3																			1	Substitution - Missense(1)	p.R599W(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(1795-1797)Cgg>Tgg		calsyntenin 2							87.0	78.0	81.0					3																	140275475		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140275475C>T	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1795C>T	3.37:g.140275475C>T	ENSP00000402460:p.Arg599Trp	HNSCC(16;0.037)					p.R599W	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN			11	1985	+			599					B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.1795C>T	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971896	0.74246	.	.	ENSG00000158258	ENST00000458420	T	0.36699	1.24	5.39	3.47	0.39725	.	0.000000	0.85682	D	0.000000	T	0.61400	0.2344	M	0.85630	2.765	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	T	0.66736	-0.5848	9	.	.	.	-27.9673	12.0457	0.53479	0.4075:0.5925:0.0:0.0	.	599	Q9H4D0	CSTN2_HUMAN	W	599	ENSP00000402460:R599W	.	R	+	1	2	CLSTN2	141758165	0.995000	0.38212	1.000000	0.80357	0.935000	0.57460	1.830000	0.39131	1.389000	0.46526	0.563000	0.77884	CGG		0.577	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		4	166	0	0	0	1	0	4	166				
ZNF831	128611	broad.mit.edu	37	20	57768699	57768699	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr20:57768699G>A	ENST00000371030.2	+	1	2625	c.2625G>A	c.(2623-2625)caG>caA	p.Q875Q		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	875							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTGCCAGGCAGGTGGGCGAGC	0.652																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(2623-2625)caG>caA		zinc finger protein 831							26.0	31.0	29.0					20																	57768699		1974	4150	6124	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768699G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2625G>A	20.37:g.57768699G>A							p.Q875Q	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	2625	+	all_lung(29;0.0085)		875					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.2625G>A	CCDS42894.1																																																																																				0.652	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		6	18	0	0	0	1	0	6	18				
DGCR14	8220	broad.mit.edu	37	22	19127229	19127229	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr22:19127229T>C	ENST00000252137.6	-	5	627	c.584A>G	c.(583-585)aAt>aGt	p.N195S		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	195					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GAGTTCGAGATTATCTTTCTG	0.562																																						ENST00000252137.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16						c.(583-585)aAt>aGt		DiGeorge syndrome critical region gene 14							152.0	140.0	144.0					22																	19127229		2203	4300	6503	SO:0001583	missense	8220				nervous system development	catalytic step 2 spliceosome		g.chr22:19127229T>C	L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.584A>G	22.37:g.19127229T>C	ENSP00000252137:p.Asn195Ser						p.N195S	NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN			5	627	-	Colorectal(54;0.0993)		195					Q49AH7|Q9BTZ4	Missense_Mutation	SNP	ENST00000252137.6	37	c.584A>G	CCDS13756.1	.	.	.	.	.	.	.	.	.	.	T	2.136	-0.397841	0.04865	.	.	ENSG00000100056	ENST00000252137	T	0.41400	1.0	4.47	2.31	0.28768	.	0.046498	0.85682	N	0.000000	T	0.25717	0.0626	L	0.34521	1.04	0.53688	D	0.999971	B	0.06786	0.001	B	0.09377	0.004	T	0.08351	-1.0726	10	0.08599	T	0.76	-7.6761	8.6123	0.33811	0.0:0.1637:0.0:0.8363	.	195	Q96DF8	DGC14_HUMAN	S	195	ENSP00000252137:N195S	ENSP00000252137:N195S	N	-	2	0	DGCR14	17507229	0.998000	0.40836	0.625000	0.29200	0.723000	0.41478	2.015000	0.40961	0.244000	0.21351	0.383000	0.25322	AAT		0.562	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2			9	117	0	0	0	1	0	9	117				
XPO6	23214	broad.mit.edu	37	16	28164063	28164063	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr16:28164063C>T	ENST00000304658.5	-	8	1641	c.1141G>A	c.(1141-1143)Gtt>Att	p.V381I	XPO6_ENST00000561488.1_5'Flank|XPO6_ENST00000565698.1_Missense_Mutation_p.V367I	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	381					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CTTAGGTGAACACTCACAAAG	0.408																																						ENST00000304658.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(1141-1143)Gtt>Att		exportin 6							79.0	71.0	73.0					16																	28164063		1860	4092	5952	SO:0001583	missense	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28164063C>T	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.1141G>A	16.37:g.28164063C>T	ENSP00000302790:p.Val381Ile					XPO6_ENST00000565698.1_Missense_Mutation_p.V367I	p.V381I	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN			8	1641	-			381					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	c.1141G>A	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301640	0.40694	.	.	ENSG00000169180	ENST00000304658	T	0.46063	0.88	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.38295	0.1035	L	0.42245	1.32	0.80722	D	1	B;B	0.29188	0.076;0.236	B;B	0.24848	0.046;0.056	T	0.09400	-1.0676	10	0.37606	T	0.19	-12.4721	17.7923	0.88558	0.0:1.0:0.0:0.0	.	381;381	B7ZM10;Q96QU8	.;XPO6_HUMAN	I	381	ENSP00000302790:V381I	ENSP00000302790:V381I	V	-	1	0	XPO6	28071564	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.629000	0.83207	2.793000	0.96121	0.655000	0.94253	GTT		0.408	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		4	176	0	0	0	1	0	4	176				
NXN	64359	broad.mit.edu	37	17	725651	725651	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:725651C>T	ENST00000336868.3	-	4	750	c.659G>A	c.(658-660)cGg>cAg	p.R220Q	NXN_ENST00000575801.1_Missense_Mutation_p.R112Q|NXN_ENST00000538650.1_5'UTR|NXN_ENST00000577098.1_5'Flank|NXN_ENST00000537628.2_5'UTR	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	220	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)	p.R220Q(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		CTTGATCTTCCGGTAGGATTC	0.592																																						ENST00000336868.3																			1	Substitution - Missense(1)	p.R220Q(1)	haematopoietic_and_lymphoid_tissue(1)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13						c.(658-660)cGg>cAg		nucleoredoxin							111.0	85.0	94.0					17																	725651		2203	4300	6503	SO:0001583	missense	64359				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity	g.chr17:725651C>T		CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.659G>A	17.37:g.725651C>T	ENSP00000337443:p.Arg220Gln					NXN_ENST00000575801.1_Missense_Mutation_p.R112Q|NXN_ENST00000538650.1_5'UTR|NXN_ENST00000537628.2_5'UTR	p.R220Q	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)	4	750	-			220			Thioredoxin.		B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Missense_Mutation	SNP	ENST00000336868.3	37	c.659G>A	CCDS10998.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.795926	0.90453	.	.	ENSG00000167693	ENST00000336868;ENST00000537628	T	0.79940	-1.32	5.94	5.94	0.96194	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.160803	0.56097	D	0.000029	T	0.71913	0.3396	N	0.02391	-0.57	0.80722	D	1	P;D;D	0.71674	0.953;0.996;0.998	P;P;P	0.55999	0.508;0.638;0.789	T	0.72743	-0.4201	10	0.15499	T	0.54	-8.2916	19.3475	0.94370	0.0:1.0:0.0:0.0	.	112;107;220	B4DXQ0;Q6DKJ4-2;Q6DKJ4	.;.;NXN_HUMAN	Q	220;112	ENSP00000337443:R220Q	ENSP00000337443:R220Q	R	-	2	0	NXN	672401	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.975000	0.70475	2.816000	0.96949	0.563000	0.77884	CGG		0.592	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206669.1			6	520	0	0	0	1	0	6	520				
STAG3L4	64940	broad.mit.edu	37	7	66774050	66774050	+	RNA	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr7:66774050G>T	ENST00000416602.2	+	0	491					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				ACTTCCCTATGGACAACCTCA	0.527																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7															148.0	150.0	149.0					7																	66774050		2203	4300	6503			64940							g.chr7:66774050G>T			7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"""stromal antigen 3-like 4"""				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		7.37:g.66774050G>T								NR_040586.1		Q8TBR4	STG34_HUMAN			0	491	+		Lung NSC(55;0.0839)|all_lung(88;0.181)						Q9H8W0	RNA	SNP	ENST00000416602.2	37			.	.	.	.	.	.	.	.	.	.	g	3.228	-0.158169	0.06544	.	.	ENSG00000106610	ENST00000416602;ENST00000437742	.	.	.	0.0465	0.0465	0.14256	STAG (1);	0.330121	0.30151	N	0.010300	T	0.32763	0.0840	.	.	.	.	.	.	B	0.17852	0.024	B	0.23574	0.047	T	0.22417	-1.0217	7	0.52906	T	0.07	.	5.9248	0.19104	7.0E-4:0.0:0.9993:0.0	.	72	Q8TBR4	STG34_HUMAN	I	72	.	ENSP00000408597:M72I	M	+	3	0	STAG3L4	66411485	1.000000	0.71417	0.018000	0.16275	0.018000	0.09664	4.519000	0.60517	0.132000	0.18615	0.134000	0.15878	ATG		0.527	STAG3L4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346611.1	NM_022906		7	338	1	0	1.76689e-08	1	2.01303e-08	7	338				
SELE	6401	broad.mit.edu	37	1	169701918	169701918	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:169701918G>A	ENST00000333360.7	-	3	398	c.259C>T	c.(259-261)Cag>Tag	p.Q87*	SELE_ENST00000367777.1_Nonsense_Mutation_p.Q87*|SELE_ENST00000367782.4_Nonsense_Mutation_p.Q87*|SELE_ENST00000367781.4_Nonsense_Mutation_p.Q87*|SELE_ENST00000367774.1_Nonsense_Mutation_p.Q87*|SELE_ENST00000367780.4_Nonsense_Mutation_p.Q87*|SELE_ENST00000367776.1_Nonsense_Mutation_p.Q87*|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367775.1_Nonsense_Mutation_p.Q87*|SELE_ENST00000367779.4_Nonsense_Mutation_p.Q87*	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	87	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	AGAGGTTTCTGGGTTCCTACC	0.433																																						ENST00000333360.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(259-261)Cag>Tag		selectin E							79.0	76.0	77.0					1																	169701918		2203	4300	6503	SO:0001587	stop_gained	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169701918G>A	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.259C>T	1.37:g.169701918G>A	ENSP00000331736:p.Gln87*					C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367782.4_Nonsense_Mutation_p.Q87*|SELE_ENST00000367774.1_Nonsense_Mutation_p.Q87*|SELE_ENST00000367780.4_Nonsense_Mutation_p.Q87*|SELE_ENST00000367777.1_Nonsense_Mutation_p.Q87*|SELE_ENST00000367776.1_Nonsense_Mutation_p.Q87*|SELE_ENST00000367775.1_Nonsense_Mutation_p.Q87*|SELE_ENST00000367779.4_Nonsense_Mutation_p.Q87*|SELE_ENST00000367781.4_Nonsense_Mutation_p.Q87*	p.Q87*	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN			3	398	-	all_hematologic(923;0.208)		87			C-type lectin.		A2RRD6|P16111	Nonsense_Mutation	SNP	ENST00000333360.7	37	c.259C>T	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	G	32	5.178759	0.94846	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	.	.	.	5.76	1.69	0.24217	.	1.073430	0.07333	N	0.879546	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	0.1191	11.2521	0.49032	0.0:0.1127:0.3149:0.5724	.	.	.	.	X	87	.	ENSP00000331736:Q87X	Q	-	1	0	SELE	167968542	1.000000	0.71417	0.960000	0.40013	0.926000	0.56050	1.193000	0.32162	0.052000	0.16007	-0.169000	0.13324	CAG		0.433	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		3	38	0	0	0	1	0	3	38				
CDC16	8881	broad.mit.edu	37	13	115004475	115004475	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr13:115004475C>T	ENST00000356221.3	+	4	320	c.212C>T	c.(211-213)gCa>gTa	p.A71V	CDC16_ENST00000360383.3_Missense_Mutation_p.A71V|CDC16_ENST00000252458.6_5'UTR|CDC16_ENST00000375310.1_5'UTR|CDC16_ENST00000375308.1_5'UTR|CDC16_ENST00000375312.3_5'UTR|CDC16_ENST00000252457.5_Missense_Mutation_p.A70V			Q13042	CDC16_HUMAN	cell division cycle 16	71					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			TTGTATGAAGCATGTCGTTAC	0.299																																						ENST00000360383.3																			0				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(211-213)gCa>gTa		cell division cycle 16							116.0	115.0	115.0					13																	115004475		2203	4300	6503	SO:0001583	missense	8881				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding	g.chr13:115004475C>T	U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1720	protein-coding gene	gene with protein product	"""anaphase-promoting complex, subunit 6"""	603461	"""CDC16 (cell division cycle 16, S. cerevisiae, homolog)"", ""CDC16 cell division cycle 16 homolog (S. cerevisiae)"", ""cell division cycle 16 homolog (S. cerevisiae)"""			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.212C>T	13.37:g.115004475C>T	ENSP00000348554:p.Ala71Val					CDC16_ENST00000375310.1_5'UTR|CDC16_ENST00000375308.1_5'UTR|CDC16_ENST00000375312.3_5'UTR|CDC16_ENST00000252458.6_5'UTR|CDC16_ENST00000252457.5_Missense_Mutation_p.A70V|CDC16_ENST00000356221.3_Missense_Mutation_p.A71V	p.A71V	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)		4	410	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	71					A2A365|Q5T8C8|Q96AE6|Q9Y564	Missense_Mutation	SNP	ENST00000356221.3	37	c.212C>T	CCDS9542.2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936614	0.73442	.	.	ENSG00000130177	ENST00000360383;ENST00000356221;ENST00000252457	T;T;T	0.37235	1.21;1.21;1.21	5.61	5.61	0.85477	Tetratricopeptide-like helical (1);	0.048596	0.85682	D	0.000000	T	0.41396	0.1157	L	0.44542	1.39	0.80722	D	1	P;P;P;P	0.40619	0.662;0.724;0.724;0.587	B;B;P;B	0.45232	0.349;0.372;0.474;0.406	T	0.06197	-1.0840	9	.	.	.	-30.4895	19.6321	0.95713	0.0:1.0:0.0:0.0	.	71;70;70;71	B4DK74;Q13042-3;Q13042-2;Q13042	.;.;.;CDC16_HUMAN	V	71;71;70	ENSP00000353549:A71V;ENSP00000348554:A71V;ENSP00000252457:A70V	.	A	+	2	0	CDC16	114022577	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.889000	0.63171	2.658000	0.90341	0.650000	0.86243	GCA		0.299	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903		3	23	0	0	0	1	0	3	23				
AAR2	25980	broad.mit.edu	37	20	34832710	34832710	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr20:34832710G>T	ENST00000373932.3	+	3	1195	c.849G>T	c.(847-849)cgG>cgT	p.R283R	AAR2_ENST00000320849.4_Silent_p.R283R|AAR2_ENST00000397286.3_Silent_p.R283R	NM_015511.3	NP_056326.2	Q9Y312	AAR2_HUMAN	AAR2 splicing factor homolog (S. cerevisiae)	283																	TCCTGTGCCGGTCAGAAGCAG	0.527																																						ENST00000373932.3																			0											c.(847-849)cgG>cgT		AAR2 splicing factor homolog (S. cerevisiae)							213.0	172.0	186.0					20																	34832710		2203	4300	6503	SO:0001819	synonymous_variant	25980							g.chr20:34832710G>T		CCDS13273.1	20q11.23	2012-07-20	2012-07-20	2012-07-20	ENSG00000131043	ENSG00000131043			15886	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 4"""	C20orf4			Standard	NM_015511		Approved	bA234K24.2	uc002xfc.3	Q9Y312	OTTHUMG00000032380	ENST00000373932.3:c.849G>T	20.37:g.34832710G>T						AAR2_ENST00000320849.4_Silent_p.R283R|AAR2_ENST00000397286.3_Silent_p.R283R	p.R283R	NM_015511.3	NP_056326.2					3	1195	+								E1P5S7|Q9H4F9|Q9P1P3|Q9UFK9	Silent	SNP	ENST00000373932.3	37	c.849G>T	CCDS13273.1																																																																																				0.527	AAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079001.2	NM_015511		13	237	1	0	2.35188e-11	1	2.76195e-11	13	237				
FAM122C	159091	broad.mit.edu	37	X	133948805	133948805	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chrX:133948805A>T	ENST00000370784.4	+	2	521	c.115A>T	c.(115-117)Aat>Tat	p.N39Y	FAM122C_ENST00000370785.3_Missense_Mutation_p.N39Y|FAM122C_ENST00000414371.2_Missense_Mutation_p.N75Y|FAM122C_ENST00000445123.1_5'UTR	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	39										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TTTTAGTTTTAATTCACAGGT	0.343																																						ENST00000414371.2																			0				endometrium(2)|kidney(1)|lung(2)	5						c.(223-225)Aat>Tat		family with sequence similarity 122C							70.0	70.0	70.0					X																	133948805		2203	4300	6503	SO:0001583	missense	159091							g.chrX:133948805A>T	BC017868	CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1	Xq26.3	2008-02-05	2006-07-11		ENSG00000156500	ENSG00000156500			25202	protein-coding gene	gene with protein product						12477932	Standard	NM_138819		Approved	RP3-473B4.1	uc004exz.2	Q6P4D5	OTTHUMG00000022716	ENST00000370784.4:c.115A>T	X.37:g.133948805A>T	ENSP00000359820:p.Asn39Tyr					FAM122C_ENST00000445123.1_5'UTR|FAM122C_ENST00000370785.3_Missense_Mutation_p.N39Y|FAM122C_ENST00000370784.4_Missense_Mutation_p.N39Y	p.N75Y	NM_001170780.1|NM_001170784.1	NP_001164251.1|NP_001164255.1	Q6P4D5	F222C_HUMAN			4	396	+	Acute lymphoblastic leukemia(192;0.000127)		39					F5H036|Q8WVK9	Missense_Mutation	SNP	ENST00000370784.4	37	c.223A>T	CCDS55501.1	.	.	.	.	.	.	.	.	.	.	a	3.108	-0.183211	0.06340	.	.	ENSG00000156500	ENST00000414371;ENST00000370784;ENST00000370785	T;T;T	0.56103	0.48;0.48;0.48	5.33	1.48	0.22813	.	0.150932	0.64402	D	0.000020	T	0.58793	0.2147	L	0.49778	1.585	0.29605	N	0.847369	D;D;D;D	0.89917	1.0;0.996;0.999;0.999	D;D;D;D	0.76071	0.986;0.952;0.987;0.987	T	0.55010	-0.8207	10	0.66056	D	0.02	-4.9597	4.0562	0.09818	0.6328:0.1757:0.1915:0.0	.	75;39;39;39	F5H036;Q6P4D5;Q6P4D5-2;Q6P187	.;F222C_HUMAN;.;.	Y	75;39;39	ENSP00000402477:N75Y;ENSP00000359820:N39Y;ENSP00000359821:N39Y	ENSP00000359820:N39Y	N	+	1	0	FAM122C	133776471	0.994000	0.37717	0.001000	0.08648	0.043000	0.13939	0.822000	0.27352	-0.067000	0.12976	0.466000	0.42574	AAT		0.343	FAM122C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_138819		6	82	0	0	0	1	0	6	82				
LRRC7	57554	broad.mit.edu	37	1	70446071	70446071	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:70446071C>A	ENST00000035383.5	+	7	637	c.607C>A	c.(607-609)Ctg>Atg	p.L203M	LRRC7_ENST00000310961.5_Missense_Mutation_p.L208M|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	203						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCCTGAAGTTCTGGATCAAAT	0.333																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(622-624)Ctg>Atg		leucine rich repeat containing 7							159.0	164.0	162.0					1																	70446071		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70446071C>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.607C>A	1.37:g.70446071C>A	ENSP00000035383:p.Leu203Met					LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.L203M	p.L208M			Q96NW7	LRRC7_HUMAN			10	1040	+			203					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.622C>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.194318	0.58017	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.35048	1.48;1.33	5.25	4.33	0.51752	.	0.080799	0.51477	D	0.000094	T	0.46171	0.1379	L	0.61036	1.89	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.49826	-0.8898	10	0.54805	T	0.06	.	13.7128	0.62678	0.0:0.8459:0.1541:0.0	.	203	Q96NW7	LRRC7_HUMAN	M	208;203;26	ENSP00000309245:L208M;ENSP00000035383:L203M	ENSP00000035383:L203M	L	+	1	2	LRRC7	70218659	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.435000	0.52849	1.333000	0.45449	-0.172000	0.13284	CTG		0.333	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		4	174	1	0	1.12685e-05	1	1.2288e-05	4	174				
DQX1	165545	broad.mit.edu	37	2	74756309	74756309	+	5'Flank	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:74756309C>T	ENST00000404568.3	-	0	0				AUP1_ENST00000377526.3_Missense_Mutation_p.V97M|HTRA2_ENST00000258080.3_5'Flank|DQX1_ENST00000393951.2_5'Flank|HTRA2_ENST00000352222.3_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1							nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						AAAGGTGTCACATGGTTGGAA	0.607																																						ENST00000377526.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						c.(289-291)Gtg>Atg		ancient ubiquitous protein 1							75.0	80.0	79.0					2																	74756309		2111	4242	6353	SO:0001631	upstream_gene_variant	550					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding	g.chr2:74756309C>T	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965		2.37:g.74756309C>T	Exception_encountered						p.V97M	NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN			3	598	-			135					Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.289G>A	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163516	0.78226	.	.	ENSG00000115307	ENST00000377526;ENST00000258081;ENST00000412627	D	0.93366	-3.21	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.94551	0.8245	L	0.49778	1.585	0.50171	D	0.999854	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.988;0.991;0.988	D	0.93650	0.6972	10	0.54805	T	0.06	-10.2596	9.4568	0.38760	0.0:0.9062:0.0:0.0938	.	97;154;97	B4DW71;E7EU18;Q9Y679-2	.;.;.	M	97;97;99	ENSP00000366748:V97M	ENSP00000258081:V97M	V	-	1	0	AUP1	74609817	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.647000	0.67923	2.669000	0.90835	0.561000	0.74099	GTG		0.607	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		4	86	0	0	0	1	0	4	86				
DGKE	8526	broad.mit.edu	37	17	54912520	54912520	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:54912520G>A	ENST00000284061.3	+	2	544	c.364G>A	c.(364-366)Gcc>Acc	p.A122T	DGKE_ENST00000576869.1_3'UTR|C17orf67_ENST00000575658.1_5'Flank|C17orf67_ENST00000397861.2_5'Flank|DGKE_ENST00000572810.1_Missense_Mutation_p.A122T|C17orf67_ENST00000487705.1_Intron	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	122					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					GGTCCTGGACGCCATGCCCCA	0.592																																						ENST00000284061.3																			0				breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(364-366)Gcc>Acc		diacylglycerol kinase, epsilon 64kDa							81.0	69.0	73.0					17																	54912520		2203	4300	6503	SO:0001583	missense	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54912520G>A	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.364G>A	17.37:g.54912520G>A	ENSP00000284061:p.Ala122Thr					DGKE_ENST00000572810.1_Missense_Mutation_p.A122T|C17orf67_ENST00000487705.1_Intron|DGKE_ENST00000576869.1_3'UTR	p.A122T	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN			2	544	+	Breast(9;3.59e-07)		122					Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	37	c.364G>A	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.894467	0.33442	.	.	ENSG00000153933	ENST00000284061	D	0.84442	-1.85	5.51	0.773	0.18516	.	0.633633	0.16005	N	0.234095	T	0.60327	0.2260	N	0.04508	-0.205	0.09310	N	1	B;B	0.15473	0.013;0.013	B;B	0.08055	0.003;0.003	T	0.48175	-0.9058	10	0.08179	T	0.78	.	4.5715	0.12212	0.0714:0.2337:0.448:0.2469	.	122;122	A1L4Q0;P52429	.;DGKE_HUMAN	T	122	ENSP00000284061:A122T	ENSP00000284061:A122T	A	+	1	0	DGKE	52267519	0.188000	0.23250	0.556000	0.28293	0.977000	0.68977	0.407000	0.21049	0.206000	0.20587	-0.175000	0.13238	GCC		0.592	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		6	233	0	0	0	1	0	6	233				
MAGI1	9223	broad.mit.edu	37	3	65342652	65342652	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:65342652T>C	ENST00000402939.2	-	23	3789	c.3790A>G	c.(3790-3792)Agg>Ggg	p.R1264G	RP11-88H12.2_ENST00000602316.1_RNA|MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1293					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTCGGATCCCTTGCGTGTGCC	0.592																																						ENST00000402939.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(3790-3792)Agg>Ggg		membrane associated guanylate kinase, WW and PDZ domain containing 1							152.0	143.0	146.0					3																	65342652		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65342652T>C	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.3790A>G	3.37:g.65342652T>C	ENSP00000385450:p.Arg1264Gly					MAGI1_ENST00000330909.8_3'UTR	p.R1264G	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	23	3789	-		Lung NSC(201;0.0016)	1293					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000402939.2	37	c.3790A>G	CCDS33780.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.982503	0.34942	.	.	ENSG00000151276	ENST00000402939	T	0.14022	2.54	4.6	4.6	0.57074	.	0.602490	0.16824	N	0.198027	T	0.11324	0.0276	N	0.24115	0.695	0.80722	D	1	B	0.24721	0.11	B	0.24848	0.056	T	0.11641	-1.0579	10	0.40728	T	0.16	-2.6488	13.9875	0.64345	0.0:0.0:0.0:1.0	.	1264	Q96QZ7-2	.	G	1264	ENSP00000385450:R1264G	ENSP00000385450:R1264G	R	-	1	2	MAGI1	65317692	0.878000	0.30173	0.487000	0.27428	0.717000	0.41224	2.206000	0.42779	1.704000	0.51252	0.402000	0.26972	AGG		0.592	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349126.1	NM_004742		4	263	0	0	0	1	0	4	263				
CRISP3	10321	broad.mit.edu	37	6	49701422	49701422	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:49701422A>T	ENST00000393666.1	-	4	423	c.417T>A	c.(415-417)taT>taA	p.Y139*	CRISP3_ENST00000371159.4_Nonsense_Mutation_p.Y170*|CRISP3_ENST00000263045.4_Nonsense_Mutation_p.Y152*|CRISP3_ENST00000433368.2_Nonsense_Mutation_p.Y162*|CRISP3_ENST00000423399.2_Nonsense_Mutation_p.Y49*			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	139	SCP.				defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTACCTGTGTATAATGTCCAA	0.398																																						ENST00000433368.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27						c.(484-486)taT>taA		cysteine-rich secretory protein 3							115.0	108.0	110.0					6																	49701422		2203	4300	6503	SO:0001587	stop_gained	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49701422A>T	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.417T>A	6.37:g.49701422A>T	ENSP00000377274:p.Tyr139*					CRISP3_ENST00000263045.4_Nonsense_Mutation_p.Y152*|CRISP3_ENST00000371159.4_Nonsense_Mutation_p.Y170*|CRISP3_ENST00000423399.2_Nonsense_Mutation_p.Y49*|CRISP3_ENST00000393666.1_Nonsense_Mutation_p.Y139*	p.Y162*	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		5	555	-	Lung NSC(77;0.0161)		139					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Nonsense_Mutation	SNP	ENST00000393666.1	37	c.486T>A		.	.	.	.	.	.	.	.	.	.	A	17.56	3.420555	0.62622	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000423399;ENST00000371159;ENST00000354620	.	.	.	5.1	-4.85	0.03142	.	0.097074	0.42821	U	0.000655	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8995	0.58117	0.3646:0.0:0.6353:0.0	.	.	.	.	X	152;162;139;49;170;162	.	ENSP00000263045:Y152X	Y	-	3	2	CRISP3	49809381	0.907000	0.30839	0.611000	0.29010	0.686000	0.39977	-0.144000	0.10280	-0.985000	0.03503	0.477000	0.44152	TAT		0.398	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		8	675	0	0	0	1	0	8	675				
TPCN2	219931	broad.mit.edu	37	11	68837896	68837896	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:68837896A>T	ENST00000294309.3	+	9	930		c.e9-1		TPCN2_ENST00000542467.1_Splice_Site|TPCN2_ENST00000442692.2_Splice_Site	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2						calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTTTTCTTTTAGTGATGATTC	0.443																																						ENST00000294309.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32						c.e9-1		two pore segment channel 2							115.0	111.0	112.0					11																	68837896		2200	4294	6494	SO:0001630	splice_region_variant	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68837896A>T	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.830-1A>T	11.37:g.68837896A>T						TPCN2_ENST00000442692.2_Splice_Site|TPCN2_ENST00000542467.1_Splice_Site		NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		9	930	+								Q9NT82	Splice_Site	SNP	ENST00000294309.3	37		CCDS8189.1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.974584	0.34848	.	.	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000535009;ENST00000542467	.	.	.	4.33	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4864	0.61369	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TPCN2	68594472	1.000000	0.71417	0.977000	0.42913	0.256000	0.26092	7.355000	0.79434	1.733000	0.51620	0.375000	0.23000	.		0.443	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075	Intron	5	104	0	0	0	1	0	5	104				
CCDC6	8030	broad.mit.edu	37	10	61566751	61566751	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr10:61566751C>T	ENST00000263102.6	-	6	1164	c.933G>A	c.(931-933)gaG>gaA	p.E311E		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	311						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TTCTCTCCATCTCCCTCTGCA	0.488			T	RET	NSCLC																																	ENST00000263102.6				Dom	yes		10	10q21	8030	T	coiled-coil domain containing 6			E	RET		NSCLC	CCDC6/RET(4)	0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18						c.(931-933)gaG>gaA		coiled-coil domain containing 6							125.0	108.0	114.0					10																	61566751		2203	4300	6503	SO:0001819	synonymous_variant	8030					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	g.chr10:61566751C>T	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"""DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"""	601985	"""DNA segment on chromosome 10 (unique) 170"""	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.933G>A	10.37:g.61566751C>T							p.E311E	NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN		Kidney(211;0.0597)	6	1164	-			311					Q15250|Q6GSG7	Silent	SNP	ENST00000263102.6	37	c.933G>A	CCDS7257.1																																																																																				0.488	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		5	109	0	0	0	1	0	5	109				
PIK3C2A	5286	broad.mit.edu	37	11	17172077	17172077	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:17172077C>A	ENST00000265970.7	-	3	1294	c.1295G>T	c.(1294-1296)gGa>gTa	p.G432V	PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.G52V	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	432	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TAGCTGAAATCCTTCAATGTC	0.403																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1294-1296)gGa>gTa		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						174.0	142.0	153.0					11																	17172077		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17172077C>A	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.1295G>T	11.37:g.17172077C>A	ENSP00000265970:p.Gly432Val					PIK3C2A_ENST00000540361.1_Missense_Mutation_p.G52V|PIK3C2A_ENST00000531428.1_5'UTR	p.G432V	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			3	1294	-			432					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.1295G>T	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659365	0.67586	.	.	ENSG00000011405	ENST00000265970;ENST00000540361;ENST00000544896	T;T	0.47869	0.83;0.83	6.03	6.03	0.97812	Phosphoinositide 3-kinase, ras-binding (2);	0.221904	0.48286	D	0.000193	T	0.64549	0.2608	M	0.66939	2.045	0.80722	D	1	D;D	0.67145	0.996;0.991	P;P	0.61201	0.885;0.864	T	0.64782	-0.6326	10	0.59425	D	0.04	-17.2667	15.6189	0.76790	0.0:0.933:0.0:0.067	.	432;432	F5H5W9;O00443	.;P3C2A_HUMAN	V	432;52;432	ENSP00000265970:G432V;ENSP00000438687:G52V	ENSP00000265970:G432V	G	-	2	0	PIK3C2A	17128653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.215000	0.51169	2.854000	0.98071	0.655000	0.94253	GGA		0.403	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		13	168	1	0	3.41278e-10	1	3.98738e-10	13	168				
SH2D2A	9047	broad.mit.edu	37	1	156779265	156779265	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:156779265C>G	ENST00000368199.3	-	7	885	c.732G>C	c.(730-732)agG>agC	p.R244S	SH2D2A_ENST00000368198.3_Missense_Mutation_p.R226S|SH2D2A_ENST00000392306.2_Missense_Mutation_p.R254S	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	244	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGGCTTGGGCCTGAGCAGCT	0.657																																						ENST00000392306.2																			0				endometrium(1)|large_intestine(2)|lung(15)	18						c.(760-762)agG>agC		SH2 domain containing 2A							46.0	53.0	51.0					1																	156779265		2203	4300	6503	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156779265C>G	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.732G>C	1.37:g.156779265C>G	ENSP00000357182:p.Arg244Ser					SH2D2A_ENST00000368199.3_Missense_Mutation_p.R244S|SH2D2A_ENST00000368198.3_Missense_Mutation_p.R226S	p.R254S	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN			7	901	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		244			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.762G>C	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656080	0.47467	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.62364	0.07;0.03;0.51	3.92	2.64	0.31445	.	1.165750	0.06025	N	0.652101	T	0.49626	0.1568	L	0.32530	0.975	0.25562	N	0.986985	D;D;D	0.76494	0.999;0.997;0.997	D;P;P	0.67382	0.951;0.895;0.895	T	0.36286	-0.9754	10	0.30854	T	0.27	-14.9673	5.4464	0.16537	0.0:0.6663:0.0:0.3337	.	254;226;244	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	S	244;226;254	ENSP00000357182:R244S;ENSP00000357181:R226S;ENSP00000376123:R254S	ENSP00000357181:R226S	R	-	3	2	SH2D2A	155045889	0.935000	0.31712	0.998000	0.56505	0.529000	0.34654	-0.017000	0.12590	0.642000	0.30620	0.555000	0.69702	AGG		0.657	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		10	286	0	0	0	1	0	10	286				
FRMD4A	55691	broad.mit.edu	37	10	13735817	13735817	+	Intron	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr10:13735817G>T	ENST00000357447.2	-	15	1486				FRMD4A_ENST00000358621.4_Intron|FRMD4A_ENST00000378503.1_Intron|FRMD4A_ENST00000342409.2_Missense_Mutation_p.Q416K|FRMD4A_ENST00000492155.1_5'UTR	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A						establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CTCCCCAGCTGCAGCTCTCCC	0.612																																						ENST00000342409.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(1246-1248)Cag>Aag		FERM domain containing 4A																																				SO:0001627	intron_variant	55691					cytoplasm|cytoskeleton	binding	g.chr10:13735817G>T	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1117+80C>A	10.37:g.13735817G>T						FRMD4A_ENST00000357447.2_Intron|FRMD4A_ENST00000358621.4_Intron|FRMD4A_ENST00000378503.1_Intron|FRMD4A_ENST00000492155.1_5'UTR	p.Q416K			Q9P2Q2	FRM4A_HUMAN			14	1626	-			897					A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.1246C>A	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244228	0.22796	.	.	ENSG00000151474	ENST00000342409	D	0.83591	-1.74	3.24	-2.9	0.05648	.	.	.	.	.	T	0.67618	0.2912	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.54470	-0.8289	8	0.72032	D	0.01	.	0.2244	0.00172	0.2384:0.2669:0.2208:0.2739	.	416	Q5T378	.	K	416	ENSP00000344237:Q416K	ENSP00000344237:Q416K	Q	-	1	0	FRMD4A	13775823	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.191000	0.17076	-0.715000	0.04968	0.561000	0.74099	CAG		0.612	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		19	75	1	0	1.50039e-11	1	1.78953e-11	19	75				
BEND6	221336	broad.mit.edu	37	6	56882003	56882003	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:56882003A>T	ENST00000370746.3	+	5	788		c.e5-1		BEND6_ENST00000545789.1_Splice_Site|BEND6_ENST00000370750.2_Splice_Site|BEND6_ENST00000484701.1_Splice_Site	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						TTATCTTTTTAGTTCCAGATT	0.313																																						ENST00000370750.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						c.e6-1		BEN domain containing 6							39.0	36.0	37.0					6																	56882003		1816	4070	5886	SO:0001630	splice_region_variant	221336							g.chr6:56882003A>T	AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"""BEN domain containing"""	20871	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 65"""	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.520-1A>T	6.37:g.56882003A>T						BEND6_ENST00000370746.3_Splice_Site|BEND6_ENST00000484701.1_Splice_Site|BEND6_ENST00000545789.1_Splice_Site				Q5SZJ8	BEND6_HUMAN			6	1169	+								Q4G0W8|Q8N662|Q96NS6	Splice_Site	SNP	ENST00000370746.3	37		CCDS43476.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.283056	0.59867	.	.	ENSG00000151917	ENST00000322055;ENST00000370746;ENST00000545789	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2057	0.54350	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BEND6	56989962	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	5.686000	0.68211	2.014000	0.59158	0.459000	0.35465	.		0.313	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	NM_152731	Intron	4	57	0	0	0	1	0	4	57				
RBAK	57786	broad.mit.edu	37	7	5104039	5104039	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr7:5104039A>G	ENST00000353796.3	+	6	1276	c.952A>G	c.(952-954)Aaa>Gaa	p.K318E	RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000396912.1_Missense_Mutation_p.K318E	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	318					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GAAGCCCTATAAATGTAATGA	0.423																																						ENST00000396912.1																			0				NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10						c.(952-954)Aaa>Gaa		RB-associated KRAB zinc finger							75.0	78.0	77.0					7																	5104039		2203	4300	6503	SO:0001583	missense	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5104039A>G	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.952A>G	7.37:g.5104039A>G	ENSP00000275423:p.Lys318Glu					RBAK_ENST00000353796.3_Missense_Mutation_p.K318E|RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron	p.K318E	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	5	1471	+		Ovarian(82;0.0175)	318					A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	c.952A>G	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	A	4.840	0.156233	0.09236	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.08370	3.1;3.1	3.76	2.59	0.31030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.113779	0.39834	N	0.001247	T	0.18002	0.0432	L	0.50333	1.59	0.26509	N	0.974636	D	0.65815	0.995	D	0.73708	0.981	T	0.11690	-1.0577	8	.	.	.	.	7.8121	0.29237	0.8942:0.0:0.1058:0.0	.	318	Q9NYW8	RBAK_HUMAN	E	318	ENSP00000275423:K318E;ENSP00000380120:K318E	.	K	+	1	0	RBAK	5070565	0.000000	0.05858	0.993000	0.49108	0.997000	0.91878	-1.146000	0.03191	0.779000	0.33543	0.454000	0.30748	AAA		0.423	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		7	167	0	0	0	1	0	7	167				
OR8I2	120586	broad.mit.edu	37	11	55861593	55861593	+	Silent	SNP	G	G	A	rs577866623		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:55861593G>A	ENST00000302124.2	+	1	841	c.810G>A	c.(808-810)gcG>gcA	p.A270A		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A270A(15)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGACCCAGGCGCAGGTGGCAT	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		20053	0.0		0.001	False		,,,				2504	0.0					ENST00000302124.2																			15	Substitution - coding silent(15)	p.A270A(15)	endometrium(15)	NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(808-810)gcG>gcA		olfactory receptor, family 8, subfamily I, member 2							87.0	85.0	86.0					11																	55861593		2201	4296	6497	SO:0001819	synonymous_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861593G>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.810G>A	11.37:g.55861593G>A						OR8I2_ENST00000560768.1_3'UTR	p.A270A			Q8N0Y5	OR8I2_HUMAN			1	841	+	Esophageal squamous(21;0.00693)		270					B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	ENST00000302124.2	37	c.810G>A	CCDS31517.1																																																																																				0.453	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		4	119	0	0	0	1	0	4	119				
POTEF	728378	broad.mit.edu	37	2	130877876	130877876	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:130877876G>C	ENST00000409914.2	-	3	612	c.213C>G	c.(211-213)tgC>tgG	p.C71W	POTEF_ENST00000357462.5_Missense_Mutation_p.C71W|POTEF_ENST00000361163.4_Missense_Mutation_p.C71W|POTEF_ENST00000360967.5_Missense_Mutation_p.C71W	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	71					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TCCCCCTGCAGCAGGGGAAGC	0.592																																						ENST00000357462.5																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(211-213)tgC>tgG		POTE ankyrin domain family, member F							82.0	114.0	103.0					2																	130877876		2189	4295	6484	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877876G>C	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.213C>G	2.37:g.130877876G>C	ENSP00000386786:p.Cys71Trp					POTEF_ENST00000360967.5_Missense_Mutation_p.C71W|POTEF_ENST00000361163.4_Missense_Mutation_p.C71W|POTEF_ENST00000409914.2_Missense_Mutation_p.C71W	p.C71W			A5A3E0	POTEF_HUMAN			1	306	-			71					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.213C>G	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	4.303	0.055538	0.08291	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.76186	-1.0;-1.0;1.82;1.79	.	.	.	.	.	.	.	.	T	0.71962	0.3402	L	0.47716	1.5	0.09310	N	0.999996	P	0.46578	0.88	P	0.51615	0.675	T	0.60291	-0.7292	7	0.40728	T	0.16	.	.	.	.	.	71	A5A3E0	POTEF_HUMAN	W	71	ENSP00000350052:C71W;ENSP00000386786:C71W;ENSP00000354232:C71W;ENSP00000355012:C71W	ENSP00000350052:C71W	C	-	3	2	POTEF	130594346	0.371000	0.25056	0.113000	0.21522	0.163000	0.22366	0.918000	0.28678	0.149000	0.19098	0.152000	0.16155	TGC		0.592	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		4	88	0	0	0	1	0	4	88				
RIPK4	54101	broad.mit.edu	37	21	43171362	43171362	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr21:43171362G>T	ENST00000352483.2	-	3	582	c.518C>A	c.(517-519)tCg>tAg	p.S173*	RIPK4_ENST00000332512.3_Nonsense_Mutation_p.S173*|RIPK4_ENST00000542057.1_Nonsense_Mutation_p.S110*|RIPK4_ENST00000544709.1_Nonsense_Mutation_p.S110*			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	173	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAGGTCATGCGAGTGGGACAG	0.537																																						ENST00000352483.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(517-519)tCg>tAg		receptor-interacting serine-threonine kinase 4							138.0	120.0	126.0					21																	43171362		2203	4300	6503	SO:0001587	stop_gained	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43171362G>T	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.518C>A	21.37:g.43171362G>T	ENSP00000330161:p.Ser173*					RIPK4_ENST00000332512.3_Nonsense_Mutation_p.S173*|RIPK4_ENST00000542057.1_Nonsense_Mutation_p.S110*|RIPK4_ENST00000544709.1_Nonsense_Mutation_p.S110*	p.S173*			Q96T11	Q96T11_HUMAN			3	582	-			173					Q96KH0	Nonsense_Mutation	SNP	ENST00000352483.2	37	c.518C>A		.	.	.	.	.	.	.	.	.	.	G	24.6	4.544960	0.86022	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	.	.	.	4.59	4.59	0.56863	.	0.108389	0.40302	N	0.001126	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9523	16.3904	0.83533	0.0:0.0:1.0:0.0	.	.	.	.	X	173;173;110;110	.	ENSP00000332454:S173X	S	-	2	0	RIPK4	42044431	1.000000	0.71417	0.891000	0.34965	0.339000	0.28857	7.008000	0.76341	2.088000	0.63022	0.561000	0.74099	TCG		0.537	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		7	368	1	0	7.48243e-07	1	8.27766e-07	7	368				
ZFHX4	79776	broad.mit.edu	37	8	77618806	77618806	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr8:77618806A>G	ENST00000521891.2	+	2	2931	c.2483A>G	c.(2482-2484)aAc>aGc	p.N828S	ZFHX4_ENST00000455469.2_Missense_Mutation_p.N828S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N828S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.N828S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	828					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTAGCCCAGAACATAGGCCTG	0.542										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(2482-2484)aAc>aGc		zinc finger homeobox 4							17.0	17.0	17.0					8																	77618806		1986	4164	6150	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618806A>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2483A>G	8.37:g.77618806A>G	ENSP00000430497:p.Asn828Ser	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Missense_Mutation_p.N828S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N828S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.N828S	p.N828S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2931	+			828					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.2483A>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	11.36	1.614346	0.28712	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53206	0.66;0.66;0.63;0.63	4.91	4.91	0.64330	.	0.000000	0.47093	U	0.000251	T	0.61800	0.2376	L	0.52364	1.645	0.80722	D	1	D;D;D;B	0.67145	0.993;0.996;0.996;0.178	D;D;D;B	0.73380	0.956;0.98;0.98;0.234	T	0.60969	-0.7157	10	0.41790	T	0.15	.	14.9861	0.71348	1.0:0.0:0.0:0.0	.	828;828;828;828	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	S	828	ENSP00000430497:N828S;ENSP00000399605:N828S;ENSP00000050961:N828S;ENSP00000430848:N828S	ENSP00000050961:N828S	N	+	2	0	ZFHX4	77781361	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.335000	0.79234	2.179000	0.69175	0.477000	0.44152	AAC		0.542	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		14	24	0	0	0	1	0	14	24				
DYSF	8291	broad.mit.edu	37	2	71883318	71883318	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:71883318G>A	ENST00000258104.3	+	42	4813	c.4536G>A	c.(4534-4536)gtG>gtA	p.V1512V	DYSF_ENST00000409651.1_Silent_p.V1544V|DYSF_ENST00000409744.1_Silent_p.V1520V|DYSF_ENST00000409762.1_Silent_p.V1529V|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Silent_p.V1513V|DYSF_ENST00000410020.3_Silent_p.V1551V|DYSF_ENST00000429174.2_Silent_p.V1533V|DYSF_ENST00000410041.1_Silent_p.V1530V|DYSF_ENST00000409582.3_Silent_p.V1550V|DYSF_ENST00000413539.2_Silent_p.V1543V|DYSF_ENST00000409366.1_Silent_p.V1534V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1512					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGGAGAATGTGGAGGCCTTTG	0.483																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(4534-4536)gtG>gtA		dysferlin							186.0	184.0	185.0					2																	71883318		2203	4300	6503	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71883318G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4536G>A	2.37:g.71883318G>A						DYSF_ENST00000409744.1_Silent_p.V1520V|DYSF_ENST00000429174.2_Silent_p.V1533V|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Silent_p.V1544V|DYSF_ENST00000413539.2_Silent_p.V1543V|DYSF_ENST00000410020.3_Silent_p.V1551V|DYSF_ENST00000409762.1_Silent_p.V1529V|DYSF_ENST00000409582.3_Silent_p.V1550V|DYSF_ENST00000410041.1_Silent_p.V1530V|DYSF_ENST00000409366.1_Silent_p.V1534V|DYSF_ENST00000394120.2_Silent_p.V1513V	p.V1512V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			42	4813	+			1512					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.4536G>A	CCDS1918.1																																																																																				0.483	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		27	400	0	0	0	1	0	27	400				
KRTAP4-6	81871	broad.mit.edu	37	17	39296282	39296282	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:39296282G>T	ENST00000345847.4	-	1	457	c.458C>A	c.(457-459)tCt>tAt	p.S153Y		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	153	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						ttcacagcaagaggggcggca	0.662																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(457-459)tCt>tAt		keratin associated protein 4-6																																				SO:0001583	missense	81871					keratin filament		g.chr17:39296282G>T	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.458C>A	17.37:g.39296282G>T	ENSP00000328270:p.Ser153Tyr						p.S153Y	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	457	-			149			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Missense_Mutation	SNP	ENST00000345847.4	37	c.458C>A	CCDS54125.1	.	.	.	.	.	.	.	.	.	.	.	10.39	1.337834	0.24253	.	.	ENSG00000198090	ENST00000345847	T	0.01838	4.61	3.93	-1.16	0.09678	.	.	.	.	.	T	0.05181	0.0138	M	0.83012	2.62	0.09310	N	1	.	.	.	.	.	.	T	0.30297	-0.9983	7	0.27785	T	0.31	.	4.1853	0.10395	0.0937:0.4543:0.2973:0.1547	.	.	.	.	Y	153	ENSP00000328270:S153Y	ENSP00000328270:S153Y	S	-	2	0	KRTAP4-6	36549808	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.680000	0.01939	-0.014000	0.14175	-1.066000	0.02275	TCT		0.662	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			3	20	1	0	0.00024832	1	0.000266973	3	20				
RBBP9	10741	broad.mit.edu	37	20	18477864	18477864	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr20:18477864G>T	ENST00000337227.4	-	0	23				RBBP9_ENST00000493184.1_5'Flank	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9						regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						GCTGAGCCCAGCCTGCTCCCG	0.687																																						ENST00000337227.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9								retinoblastoma binding protein 9																																						10741					cytoplasm|nucleus	hydrolase activity	g.chr20:18477864G>T	AF039564	CCDS13136.1	20p11.2	2008-08-01	2001-11-28		ENSG00000089050	ENSG00000089050			9892	protein-coding gene	gene with protein product		602908	"""retinoblastoma-binding protein 9"""			9697699, 10449909	Standard	NM_006606		Approved	Bog	uc002wqy.3	O75884	OTTHUMG00000031972	ENST00000337227.4:c.-53C>A	20.37:g.18477864G>T								NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN			0	23	-								D3DW31|Q5JPH9|Q9H1D8	Translation_Start_Site	SNP	ENST00000337227.4	37		CCDS13136.1																																																																																				0.687	RBBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078175.1	NM_006606		5	7	1	0	0.014758	1	0.0152922	5	7				
NSD1	64324	broad.mit.edu	37	5	176562268	176562268	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr5:176562268G>T	ENST00000439151.2	+	2	209	c.164G>T	c.(163-165)gGa>gTa	p.G55V	NSD1_ENST00000354179.4_Intron|NSD1_ENST00000511258.1_Intron|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.G55V	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	55					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACTGTCAGTGGAACATCCCAA	0.423			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(163-165)gGa>gTa		nuclear receptor binding SET domain protein 1							119.0	105.0	110.0					5																	176562268		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176562268G>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.164G>T	5.37:g.176562268G>T	ENSP00000395929:p.Gly55Val	HNSCC(47;0.14)				NSD1_ENST00000347982.4_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.G55V|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000511258.1_Intron	p.G55V	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	2	209	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	55					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.164G>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589329	0.46214	.	.	ENSG00000165671	ENST00000439151;ENST00000361032	D;D	0.94330	-3.25;-3.4	5.23	2.39	0.29439	.	0.000000	0.50627	D	0.000114	D	0.85940	0.5814	N	0.08118	0	0.80722	D	1	P;P;B	0.44429	0.835;0.745;0.215	P;B;B	0.46208	0.507;0.425;0.174	D	0.84307	0.0508	10	0.62326	D	0.03	.	7.703	0.28634	0.1528:0.2141:0.6331:0.0	.	55;55;55	Q96L73-3;Q96L73;Q6PJ64	.;NSD1_HUMAN;.	V	55	ENSP00000395929:G55V;ENSP00000354310:G55V	ENSP00000354310:G55V	G	+	2	0	NSD1	176494874	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.204000	0.42761	0.796000	0.33947	0.555000	0.69702	GGA		0.423	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		4	166	1	0	0.150653	1	0.153332	4	166				
GFM1	85476	broad.mit.edu	37	3	158378661	158378661	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:158378661A>T	ENST00000486715.1	+	10	1578		c.e10-1		GFM1_ENST00000264263.5_Splice_Site|GFM1_ENST00000478576.1_Splice_Site|GFM1_ENST00000490261.1_Splice_Site	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTGTTTTTTTAGGATGTTGAG	0.348																																						ENST00000486715.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22						c.e10-1		G elongation factor, mitochondrial 1							136.0	135.0	136.0					3																	158378661		2203	4300	6503	SO:0001630	splice_region_variant	85476				mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:158378661A>T	AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.1222-1A>T	3.37:g.158378661A>T						GFM1_ENST00000478576.1_Splice_Site|GFM1_ENST00000490261.1_Splice_Site|GFM1_ENST00000264263.5_Splice_Site		NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		10	1578	+									Splice_Site	SNP	ENST00000486715.1	37		CCDS33885.1	.	.	.	.	.	.	.	.	.	.	A	15.09	2.729825	0.48833	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.675	0.77311	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GFM1	159861355	1.000000	0.71417	0.929000	0.37066	0.442000	0.32017	8.706000	0.91362	2.155000	0.67459	0.459000	0.35465	.		0.348	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996	Intron	5	302	0	0	0	1	0	5	302				
HCCAT5	283902	broad.mit.edu	37	16	73127098	73127098	+	lincRNA	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr16:73127098C>A	ENST00000569990.2	+	0	756					NR_027756.1				hepatocellular carcinoma associated transcript 5 (non-protein coding)																		TGGACGACCACGCGCATGCAG	0.542																																						ENST00000569990.2																			0																				41.0	42.0	42.0					16																	73127098		2015	4158	6173			283902							g.chr16:73127098C>A			16q22.3	2014-06-20			ENSG00000260880	ENSG00000260880		"""Long non-coding RNAs"""	48612	non-coding RNA	RNA, long non-coding	"""hepatoma associated gene"""	615613				20130911, 23314567	Standard	NR_027756		Approved	HTA, FJ222407			OTTHUMG00000172964		16.37:g.73127098C>A								NR_027756.1						0	756	+									RNA	SNP	ENST00000569990.2	37																																																																																						0.542	HCCAT5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000440524.1	NR_027756		4	75	1	0	0.014758	1	0.0152922	4	75				
GRAMD1C	54762	broad.mit.edu	37	3	113649559	113649559	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:113649559A>T	ENST00000358160.4	+	11	1582		c.e11-1		GRAMD1C_ENST00000440446.2_Splice_Site|GRAMD1C_ENST00000479212.1_Splice_Site|GRAMD1C_ENST00000472026.1_Splice_Site|GRAMD1C_ENST00000452134.2_Splice_Site	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C							integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TGTTGTTGTTAGATGTAGTAT	0.343																																						ENST00000358160.4																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						c.e11-1		GRAM domain containing 1C							158.0	150.0	152.0					3																	113649559		2203	4300	6503	SO:0001630	splice_region_variant	54762					integral to membrane		g.chr3:113649559A>T		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.1091-1A>T	3.37:g.113649559A>T						GRAMD1C_ENST00000472026.1_Splice_Site|GRAMD1C_ENST00000452134.2_Splice_Site|GRAMD1C_ENST00000440446.2_Splice_Site|GRAMD1C_ENST00000479212.1_Splice_Site		NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN			11	1582	+								A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Splice_Site	SNP	ENST00000358160.4	37		CCDS33826.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.448563	0.84101	.	.	ENSG00000178075	ENST00000358160;ENST00000452134;ENST00000472026;ENST00000462838;ENST00000440446	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.736	0.62817	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRAMD1C	115132249	1.000000	0.71417	0.995000	0.50966	0.937000	0.57800	7.091000	0.76923	2.236000	0.73375	0.533000	0.62120	.		0.343	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577	Intron	7	119	0	0	0	1	0	7	119				
OR8B12	219858	broad.mit.edu	37	11	124412743	124412743	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:124412743C>T	ENST00000306842.2	-	1	832	c.808G>A	c.(808-810)Ggg>Agg	p.G270R		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GACACTTTCCCTTGCTCGAGG	0.438																																						ENST00000306842.2																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(808-810)Ggg>Agg		olfactory receptor, family 8, subfamily B, member 12							89.0	85.0	86.0					11																	124412743		2201	4299	6500	SO:0001583	missense	219858				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124412743C>T		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.808G>A	11.37:g.124412743C>T	ENSP00000307159:p.Gly270Arg						p.G270R	NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)	1	832	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	270					B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	37	c.808G>A	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492373	0.64074	.	.	ENSG00000170953	ENST00000306842	T	0.00076	8.76	3.89	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000026	T	0.00210	0.0006	L	0.41710	1.295	0.36363	D	0.860851	P	0.46512	0.879	P	0.47827	0.558	D	0.91470	0.5196	10	0.59425	D	0.04	.	15.8263	0.78709	0.0:1.0:0.0:0.0	.	270	Q8NGG6	OR8BC_HUMAN	R	270	ENSP00000307159:G270R	ENSP00000307159:G270R	G	-	1	0	OR8B12	123917953	0.004000	0.15560	0.833000	0.33012	0.792000	0.44763	2.042000	0.41222	2.457000	0.83068	0.650000	0.86243	GGG		0.438	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			4	95	0	0	0	1	0	4	95				
DDX24	57062	broad.mit.edu	37	14	94526868	94526868	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr14:94526868A>T	ENST00000330836.5	-	5	1620	c.1489T>A	c.(1489-1491)Tac>Aac	p.Y497N	DDX24_ENST00000555054.1_Missense_Mutation_p.Y454N|DDX24_ENST00000544005.1_Missense_Mutation_p.Y247N	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	497	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TTTGGGTTGTATTGGGAGTCA	0.498																																						ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(1489-1491)Tac>Aac		DEAD (Asp-Glu-Ala-Asp) box helicase 24							144.0	133.0	137.0					14																	94526868		2203	4300	6503	SO:0001583	missense	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94526868A>T	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.1489T>A	14.37:g.94526868A>T	ENSP00000328690:p.Tyr497Asn					DDX24_ENST00000555054.1_Missense_Mutation_p.Y454N|DDX24_ENST00000544005.1_Missense_Mutation_p.Y247N	p.Y497N	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	5	1620	-		all_cancers(154;0.12)	497			Helicase ATP-binding.		E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	c.1489T>A	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	A	14.32	2.500398	0.44455	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000543787;ENST00000555054;ENST00000542247	T;T;T	0.03330	4.06;3.97;4.06	5.45	5.45	0.79879	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.055782	0.85682	D	0.000000	T	0.03871	0.0109	N	0.20685	0.6	0.50171	D	0.999855	B	0.09022	0.002	B	0.19946	0.027	T	0.52003	-0.8633	10	0.36615	T	0.2	-12.4702	15.8213	0.78648	1.0:0.0:0.0:0.0	.	497	Q9GZR7	DDX24_HUMAN	N	497;247;442;123;454;454	ENSP00000328690:Y497N;ENSP00000440623:Y247N;ENSP00000452145:Y454N	ENSP00000328690:Y497N	Y	-	1	0	DDX24	93596621	1.000000	0.71417	0.990000	0.47175	0.956000	0.61745	7.160000	0.77495	2.192000	0.70111	0.460000	0.39030	TAC		0.498	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		6	431	0	0	0	1	0	6	431				
CDH4	1002	broad.mit.edu	37	20	60448849	60448849	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr20:60448849C>T	ENST00000360469.5	+	7	1031	c.943C>T	c.(943-945)Cgg>Tgg	p.R315W	CDH4_ENST00000543233.1_Missense_Mutation_p.R241W	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	315	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R315W(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGGGATGGTGCGGTACCGGAT	0.612																																						ENST00000360469.5																			1	Substitution - Missense(1)	p.R315W(1)	large_intestine(1)	NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(943-945)Cgg>Tgg		cadherin 4, type 1, R-cadherin (retinal)							160.0	124.0	136.0					20																	60448849		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60448849C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.943C>T	20.37:g.60448849C>T	ENSP00000353656:p.Arg315Trp					CDH4_ENST00000543233.1_Missense_Mutation_p.R241W	p.R315W	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		7	1031	+			315			Cadherin 2.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.943C>T	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684470	0.68157	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.54866	0.55;0.55	4.92	1.43	0.22495	Cadherin (4);Cadherin-like (1);	0.230798	0.40640	N	0.001048	T	0.75657	0.3879	M	0.93550	3.43	0.39684	D	0.970949	D	0.89917	1.0	D	0.66351	0.943	T	0.82406	-0.0473	9	.	.	.	.	12.8927	0.58080	0.7422:0.2578:0.0:0.0	.	315	P55283	CADH4_HUMAN	W	315;223;241	ENSP00000353656:R315W;ENSP00000443301:R241W	.	R	+	1	2	CDH4	59882244	1.000000	0.71417	0.978000	0.43139	0.759000	0.43091	1.829000	0.39121	0.433000	0.26313	0.585000	0.79938	CGG		0.612	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		6	113	0	0	0	1	0	6	113				
COX10	1352	broad.mit.edu	37	17	14005509	14005509	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:14005509A>T	ENST00000261643.3	+	4	651	c.574A>T	c.(574-576)Act>Tct	p.T192S	COX10_ENST00000537334.1_5'UTR|COX10_ENST00000536205.1_Intron	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	192					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TTTCCTGCTTACTTCTGTTGG	0.473																																						ENST00000261643.3																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(574-576)Act>Tct		cytochrome c oxidase assembly homolog 10 (yeast)							173.0	152.0	159.0					17																	14005509		2203	4300	6503	SO:0001583	missense	1352				heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity	g.chr17:14005509A>T	U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"""Mitochondrial respiratory chain complex assembly factors"""	2260	protein-coding gene	gene with protein product	"""heme A: farnesyltransferase"", ""protoheme IX farnesyltransferase, mitochondrial"", ""heme O synthase"""	602125	"""COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)"", ""COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"""			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.574A>T	17.37:g.14005509A>T	ENSP00000261643:p.Thr192Ser					COX10_ENST00000536205.1_Intron|COX10_ENST00000537334.1_5'UTR	p.T192S	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)	4	651	+		all_lung(20;0.06)|Lung SC(565;0.168)	192					B2R6U5|B4DJ50|O15334|Q969F7	Missense_Mutation	SNP	ENST00000261643.3	37	c.574A>T	CCDS11166.1	.	.	.	.	.	.	.	.	.	.	A	9.775	1.173783	0.21704	.	.	ENSG00000006695	ENST00000261643	D	0.92299	-3.01	5.26	0.0365	0.14192	.	0.319666	0.32952	N	0.005442	D	0.85465	0.5703	L	0.43923	1.385	0.80722	D	1	B	0.22541	0.071	B	0.25759	0.063	T	0.72364	-0.4316	10	0.17832	T	0.49	-20.9255	8.654	0.34051	0.3813:0.0:0.6187:0.0	.	192	Q12887	COX10_HUMAN	S	192	ENSP00000261643:T192S	ENSP00000261643:T192S	T	+	1	0	COX10	13946234	0.995000	0.38212	0.022000	0.16811	0.646000	0.38490	2.775000	0.47702	0.089000	0.17243	-1.119000	0.02030	ACT		0.473	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303		7	521	0	0	0	1	0	7	521				
KIAA1549	57670	broad.mit.edu	37	7	138602905	138602905	+	Silent	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr7:138602905A>G	ENST00000422774.1	-	2	1515	c.1467T>C	c.(1465-1467)ccT>ccC	p.P489P	KIAA1549_ENST00000440172.1_Silent_p.P489P|KIAA1549_ENST00000242365.4_Silent_p.P439P			Q9HCM3	K1549_HUMAN	KIAA1549	489						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTGGGACGATAGGTCTGGAGG	0.458			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(1465-1467)ccT>ccC		KIAA1549							35.0	35.0	35.0					7																	138602905		1932	4151	6083	SO:0001819	synonymous_variant	57670					integral to membrane		g.chr7:138602905A>G		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.1467T>C	7.37:g.138602905A>G						KIAA1549_ENST00000242365.4_Silent_p.P439P|KIAA1549_ENST00000422774.1_Silent_p.P489P	p.P489P	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			2	1515	-			489					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.1467T>C	CCDS56513.1																																																																																				0.458	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			45	78	0	0	0	1	0	45	78				
EPS15L1	58513	broad.mit.edu	37	19	16539554	16539554	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr19:16539554T>A	ENST00000248070.6	-	8	656	c.517A>T	c.(517-519)Att>Ttt	p.I173F	EPS15L1_ENST00000455140.2_Missense_Mutation_p.I173F|EPS15L1_ENST00000597937.1_Missense_Mutation_p.I173F|EPS15L1_ENST00000535753.2_Missense_Mutation_p.I173F|EPS15L1_ENST00000594975.1_Missense_Mutation_p.I173F|EPS15L1_ENST00000602009.1_Missense_Mutation_p.I19F	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	173	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TCCTTGTCAATGTCACTGAGG	0.577																																						ENST00000602009.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						c.(55-57)Att>Ttt		epidermal growth factor receptor pathway substrate 15-like 1							127.0	75.0	93.0					19																	16539554		2203	4300	6503	SO:0001583	missense	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16539554T>A	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.517A>T	19.37:g.16539554T>A	ENSP00000248070:p.Ile173Phe					EPS15L1_ENST00000597937.1_Missense_Mutation_p.I173F|EPS15L1_ENST00000594975.1_Missense_Mutation_p.I173F|EPS15L1_ENST00000455140.2_Missense_Mutation_p.I173F|EPS15L1_ENST00000248070.6_Missense_Mutation_p.I173F|EPS15L1_ENST00000535753.2_Missense_Mutation_p.I173F	p.I19F			Q9UBC2	EP15R_HUMAN			2	950	-			173			EH 1.		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	c.55A>T	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	t	20.3	3.971262	0.74246	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.39056	1.1;1.1;1.1	4.87	4.87	0.63330	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.60379	0.2264	M	0.73753	2.245	0.58432	D	0.999994	D;D;D;D;D;D	0.76494	0.992;0.996;0.999;0.999;0.998;0.995	D;D;D;D;D;D	0.76575	0.944;0.972;0.988;0.988;0.985;0.965	T	0.59161	-0.7506	10	0.13470	T	0.59	.	13.706	0.62639	0.0:0.0:0.0:1.0	.	173;173;172;173;173;173	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	F	173	ENSP00000393313:I173F;ENSP00000248070:I173F;ENSP00000440103:I173F	ENSP00000248070:I173F	I	-	1	0	EPS15L1	16400554	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	3.927000	0.56499	1.835000	0.53391	0.449000	0.29647	ATT		0.577	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		17	59	0	0	0	1	0	17	59				
XKR8	55113	broad.mit.edu	37	1	28293158	28293158	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:28293158G>A	ENST00000373884.5	+	3	1243	c.635G>A	c.(634-636)tGg>tAg	p.W212*	XKR8_ENST00000481387.1_3'UTR	NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	212					engulfment of apoptotic cell (GO:0043652)|phosphatidylserine exposure on apoptotic cell surface (GO:0070782)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		CTGCTGCTGTGGCCCCGAGTC	0.662																																						ENST00000373884.5																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(634-636)tGg>tAg		XK, Kell blood group complex subunit-related family, member 8							95.0	90.0	91.0					1																	28293158		2203	4300	6503	SO:0001587	stop_gained	55113					integral to membrane		g.chr1:28293158G>A	AK091615	CCDS315.1	1p35.3	2008-02-05	2006-01-12		ENSG00000158156	ENSG00000158156			25508	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 8"""			12477932	Standard	NM_018053		Approved	FLJ10307	uc001bph.1	Q9H6D3	OTTHUMG00000003912	ENST00000373884.5:c.635G>A	1.37:g.28293158G>A	ENSP00000362991:p.Trp212*					XKR8_ENST00000481387.1_3'UTR	p.W212*	NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)	3	1243	+		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	212						Nonsense_Mutation	SNP	ENST00000373884.5	37	c.635G>A	CCDS315.1	.	.	.	.	.	.	.	.	.	.	G	40	8.128936	0.98667	.	.	ENSG00000158156	ENST00000373884	.	.	.	5.25	4.28	0.50868	.	0.370506	0.28504	N	0.015107	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	10.4465	0.44497	0.0:0.1446:0.7057:0.1497	.	.	.	.	X	212	.	ENSP00000362991:W212X	W	+	2	0	XKR8	28165745	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.213000	0.51153	2.461000	0.83175	0.609000	0.83330	TGG		0.662	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011175.1	NM_018053		5	89	0	0	0	1	0	5	89				
ZNF91	7644	broad.mit.edu	37	19	23544867	23544867	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr19:23544867T>C	ENST00000300619.7	-	4	1119	c.914A>G	c.(913-915)cAt>cGt	p.H305R	ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	305					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAATGGCTAAAAGC	0.413																																						ENST00000300619.7																			0											c.(913-915)cAt>cGt		zinc finger protein 91							78.0	82.0	81.0					19																	23544867		2175	4288	6463	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544867T>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.914A>G	19.37:g.23544867T>C	ENSP00000300619:p.His305Arg					ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R	p.H305R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1119	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	305					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.914A>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.588219	0.00872	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17691	2.26;2.26	2.03	0.954	0.19595	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05640	0.0148	N	0.04043	-0.29	0.09310	N	1	B;B	0.26081	0.116;0.141	B;B	0.15484	0.007;0.013	T	0.41251	-0.9519	9	0.07030	T	0.85	.	6.7777	0.23628	0.0:0.1365:0.0:0.8635	.	273;305	Q05481-2;Q05481	.;ZNF91_HUMAN	R	305;273	ENSP00000300619:H305R;ENSP00000380272:H273R	ENSP00000300619:H305R	H	-	2	0	ZNF91	23336707	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.802000	0.00184	-0.005000	0.14395	-1.601000	0.00813	CAT		0.413	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		4	152	0	0	0	1	0	4	152				
DAPL1	92196	broad.mit.edu	37	2	159672329	159672329	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:159672329G>T	ENST00000309950.3	+	4	376	c.320G>T	c.(319-321)tGt>tTt	p.C107F	DAPL1_ENST00000409042.1_Intron	NM_001017920.2	NP_001017920.2	A0PJW8	DAPL1_HUMAN	death associated protein-like 1	107					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)					prostate(1)	1						CCTCGAAAATGTTAAGCCTGG	0.478																																						ENST00000309950.3																			0				prostate(1)	1						c.(319-321)tGt>tTt		death associated protein-like 1							86.0	80.0	82.0					2																	159672329		2203	4300	6503	SO:0001583	missense	92196				apoptosis|cell differentiation			g.chr2:159672329G>T		CCDS33307.1	2q24	2007-06-26			ENSG00000163331	ENSG00000163331			21490	protein-coding gene	gene with protein product							Standard	NM_001017920		Approved		uc002uaf.3	A0PJW8	OTTHUMG00000153970	ENST00000309950.3:c.320G>T	2.37:g.159672329G>T	ENSP00000309538:p.Cys107Phe					DAPL1_ENST00000409042.1_Intron	p.C107F	NM_001017920.2	NP_001017920.2	A0PJW8	DAPL1_HUMAN			4	376	+			107					A0PJW9|B9EIK6	Missense_Mutation	SNP	ENST00000309950.3	37	c.320G>T	CCDS33307.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685777	0.68157	.	.	ENSG00000163331	ENST00000309950	T	0.40476	1.03	5.58	4.7	0.59300	.	0.107287	0.64402	D	0.000005	T	0.41858	0.1177	N	0.24115	0.695	0.80722	D	1	D	0.54047	0.964	P	0.53954	0.738	T	0.37776	-0.9691	10	0.87932	D	0	.	12.7345	0.57216	0.0819:0.0:0.9181:0.0	.	107	A0PJW8	DAPL1_HUMAN	F	107	ENSP00000309538:C107F	ENSP00000309538:C107F	C	+	2	0	DAPL1	159380575	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.316000	0.59178	2.641000	0.89580	0.563000	0.77884	TGT		0.478	DAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333265.1	NM_001017920		7	110	1	0	2.10051e-16	1	2.54506e-16	7	110				
AGO1	26523	broad.mit.edu	37	1	36367579	36367579	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:36367579T>C	ENST00000373204.4	+	10	1384	c.1171T>C	c.(1171-1173)Tac>Cac	p.Y391H	AGO1_ENST00000373206.1_Missense_Mutation_p.Y316H	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	391					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CTTAGATCCCTACATCCAGGA	0.537																																						ENST00000373204.4																			0											c.(1171-1173)Tac>Cac		argonaute RISC catalytic component 1							95.0	89.0	91.0					1																	36367579		2203	4300	6503	SO:0001583	missense	26523							g.chr1:36367579T>C	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1171T>C	1.37:g.36367579T>C	ENSP00000362300:p.Tyr391His					AGO1_ENST00000373206.1_Missense_Mutation_p.Y316H	p.Y391H	NM_012199.2	NP_036331.1					10	1384	+								Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	c.1171T>C	CCDS398.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.840532	0.51057	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.05382	3.45;3.45	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.10551	0.0258	L	0.56199	1.76	0.80722	D	1	B	0.18741	0.03	B	0.23018	0.043	T	0.02721	-1.1119	10	0.59425	D	0.04	-23.2829	16.6093	0.84858	0.0:0.0:0.0:1.0	.	391	Q9UL18	AGO1_HUMAN	H	316;391	ENSP00000362302:Y316H;ENSP00000362300:Y391H	ENSP00000362300:Y391H	Y	+	1	0	EIF2C1	36140166	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	8.040000	0.89188	2.324000	0.78689	0.533000	0.62120	TAC		0.537	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			3	150	0	0	0	1	0	3	150				
KCNH7	90134	broad.mit.edu	37	2	163228383	163228383	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:163228383C>A	ENST00000332142.5	-	16	3646	c.3547G>T	c.(3547-3549)Ggt>Tgt	p.G1183C		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1183					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CTATGAAGACCCACGATTCCT	0.408																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(3547-3549)Ggt>Tgt		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						103.0	92.0	95.0					2																	163228383		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163228383C>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.3547G>T	2.37:g.163228383C>A	ENSP00000331727:p.Gly1183Cys						p.G1183C	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			16	3646	-			1183					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.3547G>T	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061144	0.55432	.	.	ENSG00000184611	ENST00000332142	D	0.98617	-5.03	5.43	4.56	0.56223	.	0.104641	0.64402	D	0.000004	D	0.96599	0.8890	N	0.24115	0.695	0.80722	D	1	P	0.46020	0.871	P	0.47430	0.547	D	0.96242	0.9176	10	0.72032	D	0.01	.	10.8297	0.46652	0.0:0.8359:0.0:0.1641	.	1183	Q9NS40	KCNH7_HUMAN	C	1183	ENSP00000331727:G1183C	ENSP00000331727:G1183C	G	-	1	0	KCNH7	162936629	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.096000	0.50243	1.303000	0.44873	0.563000	0.77884	GGT		0.408	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		7	230	1	0	5.18039e-06	1	5.67612e-06	7	230				
ADAMTS20	80070	broad.mit.edu	37	12	43858392	43858392	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr12:43858392A>T	ENST00000389420.3	-	10	1509		c.e10+1		ADAMTS20_ENST00000553158.1_Splice_Site	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20						extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCTTTTCTTACTATATGGGG	0.333																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.e10+1		ADAM metallopeptidase with thrombospondin type 1 motif, 20							81.0	83.0	83.0					12																	43858392		2203	4300	6503	SO:0001630	splice_region_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43858392A>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1509+1T>A	12.37:g.43858392A>T						ADAMTS20_ENST00000553158.1_Splice_Site		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	10	1509	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)						A6NNC9|J3QT00	Splice_Site	SNP	ENST00000389420.3	37		CCDS31778.2	.	.	.	.	.	.	.	.	.	.	A	12.47	1.948022	0.34377	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5957	0.68403	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS20	42144659	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	8.887000	0.92456	1.987000	0.57996	0.482000	0.46254	.		0.333	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	Intron	4	99	0	0	0	1	0	4	99				
C2orf16	84226	broad.mit.edu	37	2	27800205	27800205	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:27800205C>T	ENST00000408964.2	+	1	817	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	256						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TATGAAGCCACTGCAGCAAAC	0.448																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(766-768)Ctg>Ttg		chromosome 2 open reading frame 16							96.0	93.0	94.0					2																	27800205		1939	4122	6061	SO:0001819	synonymous_variant	84226							g.chr2:27800205C>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.766C>T	2.37:g.27800205C>T							p.L256L	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	817	+	Acute lymphoblastic leukemia(172;0.155)		256					B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	c.766C>T	CCDS42666.1																																																																																				0.448	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		3	141	0	0	0	1	0	3	141				
WHSC1	7468	broad.mit.edu	37	4	1955186	1955186	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr4:1955186G>A	ENST00000382895.3	+	14	2704	c.2273G>A	c.(2272-2274)cGc>cAc	p.R758H	WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382891.5_Missense_Mutation_p.R758H|WHSC1_ENST00000382892.2_Missense_Mutation_p.R758H|WHSC1_ENST00000382888.3_Missense_Mutation_p.R106H|WHSC1_ENST00000508803.1_Missense_Mutation_p.R758H	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	758					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CGAGGTTTCCGCTGCCCCCTC	0.517			T	IGH@	MM																																	ENST00000382895.3				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(2272-2274)cGc>cAc		Wolf-Hirschhorn syndrome candidate 1							139.0	151.0	147.0					4																	1955186		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1955186G>A	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.2273G>A	4.37:g.1955186G>A	ENSP00000372351:p.Arg758His					WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.R106H|WHSC1_ENST00000382891.5_Missense_Mutation_p.R758H|WHSC1_ENST00000382892.2_Missense_Mutation_p.R758H|WHSC1_ENST00000508803.1_Missense_Mutation_p.R758H	p.R758H	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	14	2704	+		all_epithelial(65;1.34e-05)	758					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.2273G>A	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	G	36	5.620493	0.96660	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	D;D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94;-3.94	5.67	5.67	0.87782	Zinc finger, RING-type (2);Zinc finger, PHD-type (1);	0.000000	0.56097	D	0.000027	D	0.98229	0.9414	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.96;0.997	D	0.98498	1.0613	10	0.59425	D	0.04	.	19.7501	0.96265	0.0:0.0:1.0:0.0	.	106;758	A2A2T2;O96028	.;NSD2_HUMAN	H	758;758;758;758;106	ENSP00000423972:R758H;ENSP00000372347:R758H;ENSP00000372348:R758H;ENSP00000372351:R758H;ENSP00000372344:R106H	ENSP00000372344:R106H	R	+	2	0	WHSC1	1924984	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.602000	0.98312	2.672000	0.90937	0.655000	0.94253	CGC		0.517	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		9	445	0	0	0	1	0	9	445				
TIE1	7075	broad.mit.edu	37	1	43777389	43777389	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:43777389C>A	ENST00000372476.3	+	10	1460	c.1381C>A	c.(1381-1383)Cgc>Agc	p.R461S	TIE1_ENST00000433781.2_Missense_Mutation_p.R106S	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	461	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAAGCAGAGCCGCCAGCTTGT	0.647																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(1381-1383)Cgc>Agc		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							54.0	56.0	55.0					1																	43777389		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43777389C>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1381C>A	1.37:g.43777389C>A	ENSP00000361554:p.Arg461Ser					TIE1_ENST00000433781.2_Missense_Mutation_p.R106S	p.R461S	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			10	1460	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	461			Fibronectin type-III 1.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.1381C>A	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243269	0.79912	.	.	ENSG00000066056	ENST00000372476;ENST00000433781	T;T	0.54479	0.57;0.57	5.17	5.17	0.71159	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.36555	N	0.002525	T	0.64875	0.2638	L	0.50333	1.59	0.49213	D	0.99976	D;D;D;D;D	0.76494	0.98;0.988;0.999;0.984;0.988	P;P;D;P;P	0.69654	0.671;0.87;0.965;0.779;0.88	T	0.57711	-0.7764	10	0.11794	T	0.64	.	18.6697	0.91506	0.0:1.0:0.0:0.0	.	106;416;461;106;461	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	S	461;106	ENSP00000361554:R461S;ENSP00000411728:R106S	ENSP00000361554:R461S	R	+	1	0	TIE1	43549976	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.058000	0.57463	2.421000	0.82119	0.563000	0.77884	CGC		0.647	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		6	93	1	0	0.0293803	1	0.0300362	6	93				
SLIT1	6585	broad.mit.edu	37	10	98817000	98817000	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr10:98817000C>T	ENST00000266058.4	-	12	1369	c.1124G>A	c.(1123-1125)gGt>gAt	p.G375D	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.G375D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	375					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCCAAACACACCACGGGGGAG	0.567																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(1123-1125)gGt>gAt		slit homolog 1 (Drosophila)							96.0	86.0	89.0					10																	98817000		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98817000C>T	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1124G>A	10.37:g.98817000C>T	ENSP00000266058:p.Gly375Asp					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.G375D	p.G375D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	12	1369	-		Colorectal(252;0.162)	375					Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.1124G>A	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830854	0.91036	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008	T;T;T	0.58652	0.32;0.32;0.32	5.73	5.73	0.89815	.	0.050832	0.85682	D	0.000000	T	0.68997	0.3062	L	0.33093	0.98	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.79108	0.992;0.974	T	0.70457	-0.4866	10	0.66056	D	0.02	.	19.4934	0.95062	0.0:1.0:0.0:0.0	.	385;375	E7EWQ8;O75093	.;SLIT1_HUMAN	D	375;385;351;375;368;351	ENSP00000266058:G375D;ENSP00000360109:G375D;ENSP00000315005:G368D	ENSP00000266058:G375D	G	-	2	0	SLIT1	98806990	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.361000	0.79497	2.713000	0.92767	0.655000	0.94253	GGT		0.567	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		14	36	0	0	0	1	0	14	36				
VRTN	55237	broad.mit.edu	37	14	74823530	74823530	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr14:74823530T>G	ENST00000256362.4	+	2	285	c.44T>G	c.(43-45)cTg>cGg	p.L15R		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	15					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CTGCAGGAGCTGCAGGAAGCA	0.587																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(43-45)cTg>cGg		vertebrae development associated							84.0	80.0	81.0					14																	74823530		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74823530T>G	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.44T>G	14.37:g.74823530T>G	ENSP00000256362:p.Leu15Arg						p.L15R	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	285	+			15					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.44T>G	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.410273	0.62399	.	.	ENSG00000133980	ENST00000557177;ENST00000256362	T;T	0.46819	0.86;0.86	4.9	4.9	0.64082	.	0.087858	0.47455	D	0.000239	T	0.52075	0.1712	L	0.27053	0.805	0.50313	D	0.999863	D	0.61697	0.99	P	0.61722	0.893	T	0.57075	-0.7873	10	0.87932	D	0	0.0368	13.2353	0.59967	0.0:0.0:0.0:1.0	.	15	Q9H8Y1	VRTN_HUMAN	R	15	ENSP00000452158:L15R;ENSP00000256362:L15R	ENSP00000256362:L15R	L	+	2	0	VRTN	73893283	1.000000	0.71417	0.999000	0.59377	0.854000	0.48673	7.097000	0.76967	2.059000	0.61396	0.459000	0.35465	CTG		0.587	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		8	102	0	0	0	1	0	8	102				
CHST10	9486	broad.mit.edu	37	2	101009797	101009797	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:101009797G>C	ENST00000264249.3	-	7	1366	c.981C>G	c.(979-981)atC>atG	p.I327M	CHST10_ENST00000409701.1_Missense_Mutation_p.I327M|CHST10_ENST00000542617.1_Missense_Mutation_p.I375M	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	327					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						CTCGTTTGCTGATGCCCAGGA	0.488																																						ENST00000264249.3																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						c.(979-981)atC>atG		carbohydrate sulfotransferase 10							149.0	135.0	140.0					2																	101009797		2203	4300	6503	SO:0001583	missense	9486				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		g.chr2:101009797G>C	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.981C>G	2.37:g.101009797G>C	ENSP00000264249:p.Ile327Met					CHST10_ENST00000542617.1_Missense_Mutation_p.I375M|CHST10_ENST00000409701.1_Missense_Mutation_p.I327M	p.I327M	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN			7	1366	-			327					Q53T18	Missense_Mutation	SNP	ENST00000264249.3	37	c.981C>G	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.453035	0.63290	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701	T;T;T	0.75938	2.02;-0.98;2.02	5.91	2.91	0.33838	.	0.237597	0.49916	D	0.000133	T	0.74512	0.3726	M	0.63843	1.955	0.52099	D	0.999947	P	0.42518	0.782	P	0.51742	0.678	T	0.72137	-0.4381	10	0.54805	T	0.06	-15.0746	3.0047	0.06025	0.1557:0.0909:0.4562:0.2972	.	327	O43529	CHSTA_HUMAN	M	327;375;327	ENSP00000264249:I327M;ENSP00000438869:I375M;ENSP00000387309:I327M	ENSP00000264249:I327M	I	-	3	3	CHST10	100376229	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	1.358000	0.34102	0.804000	0.34136	-0.140000	0.14226	ATC		0.488	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		7	205	0	0	0	1	0	7	205				
AVIL	10677	broad.mit.edu	37	12	58207197	58207197	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr12:58207197C>A	ENST00000257861.3	-	3	581	c.151G>T	c.(151-153)Gtg>Ttg	p.V51L	RP11-571M6.18_ENST00000602327.1_lincRNA|AVIL_ENST00000537081.1_Missense_Mutation_p.V44L	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	51	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGACTGGCCACTCTCCGGGTC	0.577																																						ENST00000537081.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32						c.(130-132)Gtg>Ttg		advillin							62.0	58.0	59.0					12																	58207197		2203	4300	6503	SO:0001583	missense	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58207197C>A	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.151G>T	12.37:g.58207197C>A	ENSP00000257861:p.Val51Leu					AVIL_ENST00000257861.3_Missense_Mutation_p.V51L	p.V44L			O75366	AVIL_HUMAN			3	129	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		51			Core (By similarity).		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	c.130G>T	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	C	8.029	0.761300	0.15914	.	.	ENSG00000135407	ENST00000537081;ENST00000257861;ENST00000549994	T;T;T	0.16743	2.32;2.32;2.32	4.73	2.73	0.32206	Gelsolin domain (1);	1.054110	0.07372	N	0.885912	T	0.17874	0.0429	L	0.41124	1.26	0.22610	N	0.998936	B;B;B	0.19445	0.001;0.001;0.036	B;B;B	0.32211	0.009;0.006;0.142	T	0.38802	-0.9644	10	0.17832	T	0.49	-3.6266	10.7575	0.46245	0.5232:0.4768:0.0:0.0	.	44;51;51	O75366-2;F8VVU1;O75366	.;.;AVIL_HUMAN	L	44;51;51	ENSP00000443207:V44L;ENSP00000257861:V51L;ENSP00000449239:V51L	ENSP00000257861:V51L	V	-	1	0	AVIL	56493464	0.034000	0.19679	0.982000	0.44146	0.542000	0.35054	0.313000	0.19415	1.317000	0.45149	0.655000	0.94253	GTG		0.577	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		54	98	1	0	2.40885e-21	1	2.94988e-21	54	98				
FAM9B	171483	broad.mit.edu	37	X	9000465	9000465	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chrX:9000465G>A	ENST00000327220.5	-	3	430	c.66C>T	c.(64-66)aaC>aaT	p.N22N	FAM9B_ENST00000362066.3_Silent_p.N67N|FAM9B_ENST00000428477.1_Silent_p.N22N			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	22						nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				CTGTAAAACGGTTTCTTTCCT	0.398																																						ENST00000362066.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						c.(199-201)aaC>aaT		family with sequence similarity 9, member B							238.0	196.0	210.0					X																	9000465		2203	4300	6503	SO:0001819	synonymous_variant	171483					nucleus		g.chrX:9000465G>A		CCDS14132.1	Xp22.31	2014-02-17			ENSG00000177138	ENSG00000177138			18404	protein-coding gene	gene with protein product	"""testis expressed 39B"""	300478				12213195, 21085121, 21998597, 22936694	Standard	XM_005274456		Approved	TEX39B	uc011mhu.2	Q8IZU0	OTTHUMG00000021114	ENST00000327220.5:c.66C>T	X.37:g.9000465G>A						FAM9B_ENST00000327220.5_Silent_p.N22N|FAM9B_ENST00000428477.1_Silent_p.N22N	p.N67N			Q8IZU0	FAM9B_HUMAN			2	389	-		Hepatocellular(5;0.219)	22					Q0IJ68|Q8N7Z8	Silent	SNP	ENST00000327220.5	37	c.201C>T	CCDS14132.1																																																																																				0.398	FAM9B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055702.2	NM_205849		5	185	0	0	0	1	0	5	185				
SARDH	1757	broad.mit.edu	37	9	136599018	136599018	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr9:136599018G>A	ENST00000371872.4	-	2	535	c.278C>T	c.(277-279)gCg>gTg	p.A93V	SARDH_ENST00000422262.2_Intron|SARDH_ENST00000371867.1_Missense_Mutation_p.A4V|SARDH_ENST00000439388.1_Missense_Mutation_p.A93V|SARDH_ENST00000298628.5_Missense_Mutation_p.A93V	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	93					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CAGCAGCACCGCCCCACTCAT	0.692																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(277-279)gCg>gTg		sarcosine dehydrogenase							14.0	11.0	12.0					9																	136599018		2190	4290	6480	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136599018G>A		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.278C>T	9.37:g.136599018G>A	ENSP00000360938:p.Ala93Val					SARDH_ENST00000439388.1_Missense_Mutation_p.A93V|SARDH_ENST00000422262.2_Intron|SARDH_ENST00000298628.5_Missense_Mutation_p.A93V|SARDH_ENST00000371867.1_Missense_Mutation_p.A4V	p.A93V	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	2	535	-			93					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.278C>T	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	G	5.728	0.318814	0.10845	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000427237;ENST00000539227;ENST00000535281;ENST00000371867;ENST00000393050;ENST00000298628	T;T;T;T	0.67523	-0.27;-0.27;1.04;-0.27	4.77	2.57	0.30868	FAD dependent oxidoreductase (1);	0.295799	0.31123	N	0.008214	T	0.27731	0.0682	N	0.01289	-0.905	0.23381	N	0.997796	B	0.18461	0.028	B	0.24006	0.05	T	0.37776	-0.9691	10	0.02654	T	1	-18.7046	4.3284	0.11051	0.539:0.0:0.4609:0.0	.	93	Q9UL12	SARDH_HUMAN	V	93;93;93;93;93;4;71;93	ENSP00000360938:A93V;ENSP00000403084:A93V;ENSP00000360933:A4V;ENSP00000298628:A93V	ENSP00000298628:A93V	A	-	2	0	SARDH	135588839	0.625000	0.27111	0.027000	0.17364	0.578000	0.36192	1.950000	0.40323	0.976000	0.38417	0.591000	0.81541	GCG		0.692	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			4	44	0	0	0	1	0	4	44				
ANGEL2	90806	broad.mit.edu	37	1	213178426	213178426	+	Silent	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:213178426A>G	ENST00000366962.3	-	5	1237	c.1083T>C	c.(1081-1083)taT>taC	p.Y361Y	ANGEL2_ENST00000360506.2_Silent_p.Y192Y|ANGEL2_ENST00000473303.1_5'Flank|ANGEL2_ENST00000540642.1_Silent_p.Y235Y|ANGEL2_ENST00000535388.1_Silent_p.Y192Y|ANGEL2_ENST00000544555.1_Silent_p.Y192Y	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	361										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TTATGAAACTATATAGTGGAG	0.408																																						ENST00000366962.3																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24						c.(1081-1083)taT>taC		angel homolog 2 (Drosophila)							69.0	69.0	69.0					1																	213178426		2203	4300	6503	SO:0001819	synonymous_variant	90806							g.chr1:213178426A>G	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.1083T>C	1.37:g.213178426A>G						ANGEL2_ENST00000360506.2_Silent_p.Y192Y|ANGEL2_ENST00000544555.1_Silent_p.Y192Y|ANGEL2_ENST00000535388.1_Silent_p.Y192Y|ANGEL2_ENST00000540642.1_Silent_p.Y235Y	p.Y361Y	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	5	1237	-			361					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Silent	SNP	ENST00000366962.3	37	c.1083T>C	CCDS1512.1																																																																																				0.408	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		87	61	0	0	0	1	0	87	61				
HNRNPU	3192	broad.mit.edu	37	1	245022119	245022119	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:245022119T>C	ENST00000283179.9	-	6	1305	c.1142A>G	c.(1141-1143)tAt>tGt	p.Y381C	HNRNPU_ENST00000444376.2_Missense_Mutation_p.Y362C			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	381	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTTTAGAGAATACCCATAAGA	0.289																																					NSCLC(33;911 1010 3329 23631 49995)	ENST00000444376.2																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1084-1086)tAt>tGt		heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)							94.0	91.0	92.0					1																	245022119		2201	4297	6498	SO:0001583	missense	3192				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	g.chr1:245022119T>C	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1142A>G	1.37:g.245022119T>C	ENSP00000283179:p.Tyr381Cys					HNRNPU_ENST00000283179.9_Missense_Mutation_p.Y381C	p.Y362C	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		6	1319	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		381			B30.2/SPRY.		O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	ENST00000283179.9	37	c.1085A>G	CCDS41479.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.187252	0.78789	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948;ENST00000440865	T;T;T	0.76709	-1.04;-1.04;-1.04	5.79	5.79	0.91817	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.91962	0.7454	H	0.96208	3.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.988;0.997;0.999;0.979	D	0.94362	0.7588	10	0.87932	D	0	-10.4673	16.1169	0.81309	0.0:0.0:0.0:1.0	.	306;362;381;105	B3KX72;Q00839-2;Q00839;Q5RI19	.;.;HNRPU_HUMAN;.	C	362;381;306;158	ENSP00000393151:Y362C;ENSP00000283179:Y381C;ENSP00000410728:Y158C	ENSP00000283179:Y381C	Y	-	2	0	HNRNPU	243088742	1.000000	0.71417	0.996000	0.52242	0.864000	0.49448	6.174000	0.71943	2.205000	0.71048	0.482000	0.46254	TAT		0.289	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		6	15	0	0	0	1	0	6	15				
GRSF1	2926	broad.mit.edu	37	4	71693661	71693661	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr4:71693661T>G	ENST00000254799.6	-	6	1160	c.1043A>C	c.(1042-1044)aAg>aCg	p.K348T	GRSF1_ENST00000439371.1_Missense_Mutation_p.K186T|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000545193.1_Missense_Mutation_p.K230T|GRSF1_ENST00000502323.1_Missense_Mutation_p.K186T	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	348					anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			AGTTATATACTTAGCAGTAGG	0.373																																						ENST00000254799.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17						c.(1042-1044)aAg>aCg		G-rich RNA sequence binding factor 1							194.0	191.0	192.0					4																	71693661		1860	4096	5956	SO:0001583	missense	2926				mRNA polyadenylation		mRNA binding|nucleotide binding	g.chr4:71693661T>G	BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"""RNA binding motif (RRM) containing"""	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.1043A>C	4.37:g.71693661T>G	ENSP00000254799:p.Lys348Thr					GRSF1_ENST00000439371.1_Missense_Mutation_p.K186T|GRSF1_ENST00000545193.1_Missense_Mutation_p.K230T|GRSF1_ENST00000502323.1_Missense_Mutation_p.K186T|GRSF1_ENST00000508091.1_Intron	p.K348T	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	Lung(101;0.235)		6	1160	-		all_hematologic(202;0.21)	348					B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Missense_Mutation	SNP	ENST00000254799.6	37	c.1043A>C	CCDS47069.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.1|25.1	4.598946|4.598946	0.87055|0.87055	.|.	.|.	ENSG00000132463|ENSG00000132463	ENST00000254799;ENST00000439371;ENST00000540657;ENST00000499044;ENST00000502323;ENST00000545193|ENST00000514161	T;T;T;T;T|.	0.19532|.	2.14;2.21;2.14;2.21;2.22|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.510962|.	0.22261|.	N|.	0.062402|.	T|T	0.57475|0.57475	0.2056|0.2056	L|L	0.27053|0.27053	0.805|0.805	0.41257|0.41257	D|D	0.986752|0.986752	D;P|.	0.54601|.	0.967;0.931|.	B;B|.	0.44224|.	0.432;0.444|.	T|T	0.60546|0.60546	-0.7242|-0.7242	10|6	0.14656|0.54805	T|T	0.56|0.06	-11.1592|-11.1592	15.6176|15.6176	0.76780|0.76780	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	261;348|.	B7Z5F9;Q12849|.	.;GRSF1_HUMAN|.	T|R	348;186;280;321;186;230|285	ENSP00000254799:K348T;ENSP00000389219:K186T;ENSP00000427354:K321T;ENSP00000425430:K186T;ENSP00000443380:K230T|.	ENSP00000254799:K348T|ENSP00000427644:S113R	K|S	-|-	2|1	0|0	GRSF1|GRSF1	71912525|71912525	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	2.431000|2.431000	0.44775|0.44775	2.330000|2.330000	0.79161|0.79161	0.477000|0.477000	0.44152|0.44152	AAG|AGT		0.373	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	NM_002092		79	139	0	0	0	1	0	79	139				
XRCC6BP1	91419	broad.mit.edu	37	12	58350468	58350468	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr12:58350468A>T	ENST00000300145.3	+	6	662		c.e6-1		XRCC6BP1_ENST00000546709.1_Splice_Site	NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1						double-strand break repair via nonhomologous end joining (GO:0006303)|protein phosphorylation (GO:0006468)	DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)	DNA-dependent protein kinase activity (GO:0004677)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						CCTTCTTTTTAGACTTGTGTG	0.308																																						ENST00000300145.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						c.e6-1		XRCC6 binding protein 1							103.0	94.0	96.0					12																	58350468		1821	4076	5897	SO:0001630	splice_region_variant	91419				double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity	g.chr12:58350468A>T	AF078164	CCDS41802.1	12q14.1	2006-01-09				ENSG00000166896			29452	protein-coding gene	gene with protein product	"""Ku70 binding protein 3"""					10219089	Standard	XM_005269223		Approved	KUB3	uc001sqp.3	Q9Y6H3	OTTHUMG00000170493	ENST00000300145.3:c.538-1A>T	12.37:g.58350468A>T						XRCC6BP1_ENST00000546709.1_Splice_Site		NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN			6	662	+								Q1RLM4|Q96E81	Splice_Site	SNP	ENST00000300145.3	37		CCDS41802.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.475198	0.84640	.	.	ENSG00000166896	ENST00000300145	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1164	0.81306	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	XRCC6BP1	56636735	0.991000	0.36638	0.992000	0.48379	0.956000	0.61745	2.781000	0.47750	2.269000	0.75478	0.455000	0.32223	.		0.308	XRCC6BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409390.1	NM_033276	Intron	6	176	0	0	0	1	0	6	176				
SYNGAP1	8831	broad.mit.edu	37	6	33408591	33408591	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:33408591C>A	ENST00000418600.2	+	11	1863	c.1762C>A	c.(1762-1764)Ctt>Att	p.L588I	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.L588I|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.L529I|MIR5004_ENST00000579078.1_RNA	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	588	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CGCAGACAGGCTTATCAGCGC	0.622																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(1762-1764)Ctt>Att		synaptic Ras GTPase activating protein 1							86.0	73.0	78.0					6																	33408591		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33408591C>A	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.1762C>A	6.37:g.33408591C>A	ENSP00000403636:p.Leu588Ile					SYNGAP1_ENST00000428982.2_Missense_Mutation_p.L529I|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.L588I|SYNGAP1_ENST00000496374.1_3'UTR	p.L588I	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			11	1863	+			588			Ras-GAP.		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.1762C>A	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	32	5.161728	0.94727	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.79454	-1.27;-1.27;-1.27	5.24	5.24	0.73138	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.64402	D	0.000001	D	0.87317	0.6147	M	0.83118	2.625	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.996	D;D;D	0.85130	0.997;0.995;0.995	D	0.88537	0.3107	10	0.87932	D	0	.	16.3526	0.83220	0.0:1.0:0.0:0.0	.	588;588;588	Q96PV0;Q96PV0-2;Q96PV0-4	SYGP1_HUMAN;.;.	I	588;588;588;529	ENSP00000293748:L588I;ENSP00000403636:L588I;ENSP00000412475:L529I	ENSP00000293748:L588I	L	+	1	0	SYNGAP1	33516569	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.837000	0.62796	2.733000	0.93635	0.655000	0.94253	CTT		0.622	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		10	160	1	0	2.17888e-05	1	2.36475e-05	10	160				
DOCK2	1794	broad.mit.edu	37	5	169472850	169472850	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr5:169472850G>T	ENST00000256935.8	+	39	3987	c.3907G>T	c.(3907-3909)Gag>Tag	p.E1303*	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Nonsense_Mutation_p.E795*|DOCK2_ENST00000540750.1_Nonsense_Mutation_p.E364*	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1303	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTGTGCAAGGAGCTGGCGGA	0.572																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(3907-3909)Gag>Tag		dedicator of cytokinesis 2							186.0	165.0	172.0					5																	169472850		2203	4300	6503	SO:0001587	stop_gained	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169472850G>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3907G>T	5.37:g.169472850G>T	ENSP00000256935:p.Glu1303*					DOCK2_ENST00000520908.1_Nonsense_Mutation_p.E795*|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Nonsense_Mutation_p.E364*	p.E1303*	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		39	3987	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1303			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Nonsense_Mutation	SNP	ENST00000256935.8	37	c.3907G>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	50	16.798328	0.99872	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	.	.	.	5.15	5.15	0.70609	.	0.057014	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	14.2665	0.66121	0.0:0.1489:0.8511:0.0	.	.	.	.	X	1303;795;364	.	ENSP00000256935:E1303X	E	+	1	0	DOCK2	169405428	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.527000	0.73803	2.379000	0.81126	0.561000	0.74099	GAG		0.572	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		11	590	1	0	8.28177e-16	1	9.98171e-16	11	590				
ACVR1B	91	broad.mit.edu	37	12	52385669	52385669	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr12:52385669G>A	ENST00000257963.4	+	8	1361	c.1284G>A	c.(1282-1284)ctG>ctA	p.L428L	ACVR1B_ENST00000542485.1_Silent_p.L376L|ACVR1B_ENST00000426655.2_Silent_p.L428L|ACVR1B_ENST00000541224.1_Silent_p.L469L|ACVR1B_ENST00000563121.1_3'UTR	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	428	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	AATATCAGCTGCCATATTACG	0.463																																						ENST00000257963.4																			0				breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44						c.(1282-1284)ctG>ctA		activin A receptor, type IB	Adenosine triphosphate(DB00171)						164.0	153.0	157.0					12																	52385669		2203	4300	6503	SO:0001819	synonymous_variant	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52385669G>A		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1284G>A	12.37:g.52385669G>A						ACVR1B_ENST00000542485.1_Silent_p.L376L|ACVR1B_ENST00000563121.1_3'UTR|ACVR1B_ENST00000541224.1_Silent_p.L469L|ACVR1B_ENST00000426655.2_Silent_p.L428L	p.L428L	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	8	1361	+			428			Protein kinase.		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Silent	SNP	ENST00000257963.4	37	c.1284G>A	CCDS8816.1																																																																																				0.463	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		7	356	0	0	0	1	0	7	356				
TMC1	117531	broad.mit.edu	37	9	75404083	75404083	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr9:75404083C>T	ENST00000297784.5	+	15	1614	c.1074C>T	c.(1072-1074)gtC>gtT	p.V358V	TMC1_ENST00000340019.3_Silent_p.V358V|TMC1_ENST00000396237.3_Silent_p.V358V	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	358					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						AAGAAAACGTCCACTTGATCA	0.413																																					Pancreas(75;173 1345 14232 34245 43413)	ENST00000297784.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1072-1074)gtC>gtT		transmembrane channel-like 1							118.0	109.0	112.0					9																	75404083		2203	4300	6503	SO:0001819	synonymous_variant	117531				sensory perception of sound	integral to membrane		g.chr9:75404083C>T	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.1074C>T	9.37:g.75404083C>T						TMC1_ENST00000396237.3_Silent_p.V358V|TMC1_ENST00000340019.3_Silent_p.V358V	p.V358V	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN			15	1614	+			358					A8MVZ2|B1AM91	Silent	SNP	ENST00000297784.5	37	c.1074C>T	CCDS6643.1																																																																																				0.413	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			6	250	0	0	0	1	0	6	250				
TNNT2	7139	broad.mit.edu	37	1	201335996	201335996	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:201335996C>A	ENST00000509001.1	-	7	459	c.173G>T	c.(172-174)gGc>gTc	p.G58V	TNNT2_ENST00000367315.2_Missense_Mutation_p.G58V|TNNT2_ENST00000367322.1_Missense_Mutation_p.G58V|TNNT2_ENST00000360372.4_Missense_Mutation_p.G53V|TNNT2_ENST00000460780.1_5'Flank|TNNT2_ENST00000458432.2_Missense_Mutation_p.G70V|TNNT2_ENST00000367320.2_Missense_Mutation_p.G67V|TNNT2_ENST00000421663.2_Missense_Mutation_p.G60V|TNNT2_ENST00000367318.5_Missense_Mutation_p.G58V|TNNT2_ENST00000367317.4_Missense_Mutation_p.G58V|TNNT2_ENST00000236918.7_Missense_Mutation_p.G63V	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	68					ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						CTCCATTGGGCCATCTGGAGG	0.597																																						ENST00000509001.1																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						c.(172-174)gGc>gTc		troponin T type 2 (cardiac)							89.0	85.0	86.0					1																	201335996		2203	4300	6503	SO:0001583	missense	7139				ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr1:201335996C>A	X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"""troponin T2, cardiac"", ""cardiomyopathy, hypertrophic 2"", ""cardiomyopathy, dilated 1D (autosomal dominant)"""	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.173G>T	1.37:g.201335996C>A	ENSP00000422031:p.Gly58Val					TNNT2_ENST00000367317.4_Missense_Mutation_p.G58V|TNNT2_ENST00000236918.7_Missense_Mutation_p.G63V|TNNT2_ENST00000367322.1_Missense_Mutation_p.G58V|TNNT2_ENST00000421663.2_Missense_Mutation_p.G60V|TNNT2_ENST00000367318.5_Missense_Mutation_p.G58V|TNNT2_ENST00000367315.2_Missense_Mutation_p.G58V|TNNT2_ENST00000360372.4_Missense_Mutation_p.G53V|TNNT2_ENST00000367320.2_Missense_Mutation_p.G67V|TNNT2_ENST00000458432.2_Missense_Mutation_p.G70V	p.G58V	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN			7	459	-			68					A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	Missense_Mutation	SNP	ENST00000509001.1	37	c.173G>T	CCDS30969.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.448174	0.63178	.	.	ENSG00000118194	ENST00000367322;ENST00000367318;ENST00000458432;ENST00000421663;ENST00000236918;ENST00000367317;ENST00000367315;ENST00000360372;ENST00000357848;ENST00000367320;ENST00000509001;ENST00000438742;ENST00000455702;ENST00000422165;ENST00000412633	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99445	-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91	4.67	3.74	0.42951	.	0.488362	0.20948	N	0.082811	D	0.98030	0.9351	N	0.24115	0.695	0.80722	D	1	P;D;P;P;D	0.58268	0.906;0.982;0.94;0.94;0.964	B;P;B;B;P	0.54140	0.346;0.743;0.331;0.331;0.531	D	0.95982	0.8978	10	0.31617	T	0.26	-22.1946	8.0539	0.30593	0.0:0.8891:0.0:0.1109	.	53;67;68;58;68	E7EPW4;P45379-3;P45379;Q9BUF6;P45379-10	.;.;TNNT2_HUMAN;.;.	V	58;58;70;60;63;58;58;53;54;67;58;53;68;63;57	ENSP00000356291:G58V;ENSP00000356287:G58V;ENSP00000387874:G70V;ENSP00000404134:G60V;ENSP00000236918:G63V;ENSP00000356286:G58V;ENSP00000356284:G58V;ENSP00000353535:G53V;ENSP00000356289:G67V;ENSP00000422031:G58V;ENSP00000414036:G53V;ENSP00000402238:G68V;ENSP00000395163:G63V;ENSP00000408731:G57V	ENSP00000236918:G63V	G	-	2	0	TNNT2	199602619	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	1.326000	0.33735	2.296000	0.77279	0.561000	0.74099	GGC		0.597	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360358.1	NM_000364		47	87	1	0	5.13769e-22	1	6.32543e-22	47	87				
GPR115	221393	broad.mit.edu	37	6	47682442	47682442	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:47682442G>A	ENST00000283303.2	+	6	1719	c.1461G>A	c.(1459-1461)ctG>ctA	p.L487L	RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Silent_p.L487L|GPR115_ENST00000371220.1_Silent_p.L544L	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	487					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						ACCTCTCTCTGTTTTTCTGGA	0.408																																					GBM(22;431 510 9010 26644 32828)	ENST00000283303.2																			0				NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						c.(1459-1461)ctG>ctA		G protein-coupled receptor 115							222.0	210.0	214.0					6																	47682442		2203	4300	6503	SO:0001819	synonymous_variant	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47682442G>A	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1461G>A	6.37:g.47682442G>A						GPR115_ENST00000371220.1_Silent_p.L544L|GPR115_ENST00000327753.3_Silent_p.L487L	p.L487L	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN			6	1719	+			487					B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Silent	SNP	ENST00000283303.2	37	c.1461G>A	CCDS4922.2																																																																																				0.408	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		17	2489	0	0	0	1	0	17	2489				
PAOX	196743	broad.mit.edu	37	10	135197645	135197645	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr10:135197645G>A	ENST00000278060.5	+	4	1133	c.1050G>A	c.(1048-1050)gaG>gaA	p.E350E	PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000357296.3_Silent_p.E350E|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000480071.2_Intron	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	488					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		CGCCCCTGGAGGATGCTGCCC	0.582																																						ENST00000278060.5																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23						c.(1048-1050)gaG>gaA		polyamine oxidase (exo-N4-amino)							126.0	103.0	111.0					10																	135197645		2203	4300	6503	SO:0001819	synonymous_variant	196743				polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	g.chr10:135197645G>A	BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.1050G>A	10.37:g.135197645G>A						PAOX_ENST00000480071.2_Intron|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000357296.3_Silent_p.E350E|PAOX_ENST00000368535.2_3'UTR	p.E350E	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	4	1133	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	488					D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Silent	SNP	ENST00000278060.5	37	c.1050G>A	CCDS7683.1	.	.	.	.	.	.	.	.	.	.	g	0.042	-1.280187	0.01398	.	.	ENSG00000148832	ENST00000539775	.	.	.	4.98	1.97	0.26223	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2033	0.10476	0.1801:0.0:0.5256:0.2943	.	.	.	.	.	-1	.	.	.	+	.	.	PAOX	135047635	0.004000	0.15560	0.076000	0.20297	0.064000	0.16182	0.155000	0.16362	0.690000	0.31570	0.558000	0.71614	.		0.582	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051146.2	NM_152911		3	92	0	0	0	1	0	3	92				
PIAS3	10401	broad.mit.edu	37	1	145579330	145579330	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:145579330C>T	ENST00000393045.2	+	5	757	c.667C>T	c.(667-669)Ccg>Tcg	p.P223S	PIAS3_ENST00000369298.1_Missense_Mutation_p.P188S|PIAS3_ENST00000369299.3_Missense_Mutation_p.P214S	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	223	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTGCCCCCTGCCGGTAAATGC	0.463																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(667-669)Ccg>Tcg		protein inhibitor of activated STAT, 3							119.0	116.0	117.0					1																	145579330		2203	4300	6503	SO:0001583	missense	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145579330C>T	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.667C>T	1.37:g.145579330C>T	ENSP00000376765:p.Pro223Ser					PIAS3_ENST00000369299.3_Missense_Mutation_p.P214S|PIAS3_ENST00000369298.1_Missense_Mutation_p.P188S	p.P223S	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN			5	757	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		223			PINIT.		Q9UFI3	Missense_Mutation	SNP	ENST00000393045.2	37	c.667C>T	CCDS920.2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642439	0.87859	.	.	ENSG00000131788	ENST00000393046;ENST00000369299;ENST00000393045;ENST00000369298	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.34	4.34	0.51931	PINIT domain (1);	0.000000	0.50627	D	0.000112	T	0.62405	0.2425	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.70543	-0.4843	10	0.87932	D	0	-12.876	14.4167	0.67155	0.0:1.0:0.0:0.0	.	214;223	F8WA94;Q9Y6X2	.;PIAS3_HUMAN	S	214;214;223;188	ENSP00000376766:P214S;ENSP00000358305:P214S;ENSP00000376765:P223S;ENSP00000358304:P188S	ENSP00000358304:P188S	P	+	1	0	PIAS3	144290687	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.620000	0.83070	2.241000	0.73720	0.655000	0.94253	CCG		0.463	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		10	395	0	0	0	1	0	10	395				
GOLM1	51280	broad.mit.edu	37	9	88642810	88642810	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr9:88642810T>A	ENST00000388712.3	-	10	1298		c.e10-2		GOLM1_ENST00000388711.3_Splice_Site	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1						nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CATTAAAAACTAAAAAGGAAA	0.323																																						ENST00000388712.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						c.e10-2		golgi membrane protein 1							69.0	65.0	66.0					9																	88642810		2202	4299	6501	SO:0001630	splice_region_variant	51280					Golgi apparatus|integral to plasma membrane		g.chr9:88642810T>A	AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"""golgi phosphoprotein 2"", ""chromosome 9 open reading frame 155"""	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.1130-2A>T	9.37:g.88642810T>A						GOLM1_ENST00000388711.3_Splice_Site		NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN			10	1298	-								Q6IAF4|Q9NRB9	Splice_Site	SNP	ENST00000388712.3	37		CCDS35054.1	.	.	.	.	.	.	.	.	.	.	t	17.80	3.478394	0.63849	.	.	ENSG00000135052	ENST00000388712;ENST00000388711	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3081	0.49347	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GOLM1	87832630	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	3.047000	0.49854	2.233000	0.73108	0.533000	0.62120	.		0.323	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052904.2	NM_177937	Intron	8	55	0	0	0	1	0	8	55				
HSPH1	10808	broad.mit.edu	37	13	31726989	31726989	+	Splice_Site	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr13:31726989C>T	ENST00000320027.5	-	5	873	c.529G>A	c.(529-531)Gtt>Att	p.V177I	HSPH1_ENST00000445273.2_Splice_Site_p.V179I|HSPH1_ENST00000380405.4_Splice_Site_p.V177I|HSPH1_ENST00000380406.5_Splice_Site_p.V136I|HSPH1_ENST00000429785.2_Intron	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	177					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTTTCCTTACCAGCTGTCATG	0.398																																						ENST00000320027.5																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.e5+1		heat shock 105kDa/110kDa protein 1							245.0	237.0	240.0					13																	31726989		2203	4299	6502	SO:0001630	splice_region_variant	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31726989C>T	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.529+1G>A	13.37:g.31726989C>T						HSPH1_ENST00000380405.4_Splice_Site_p.V177_splice|HSPH1_ENST00000380406.5_Splice_Site_p.V136_splice|HSPH1_ENST00000445273.2_Splice_Site_p.V179_splice|HSPH1_ENST00000429785.2_Intron	p.V177_splice	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	5	873	-		Lung SC(185;0.0257)	177					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Splice_Site	SNP	ENST00000320027.5	37	c.529_splice	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787243	0.90367	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000438061	T;T;T;T	0.04119	5.48;5.48;3.7;5.48	5.15	5.15	0.70609	.	0.145351	0.44902	D	0.000419	T	0.16041	0.0386	L	0.42632	1.34	0.80722	D	1	P;D;D;D	0.76494	0.918;0.999;0.985;0.999	P;D;P;D	0.76071	0.749;0.987;0.868;0.983	T	0.01600	-1.1315	9	.	.	.	-23.8898	18.9909	0.92791	0.0:1.0:0.0:0.0	.	136;179;177;177	Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;HS105_HUMAN	I	177;177;136;179;228	ENSP00000318687:V177I;ENSP00000369768:V177I;ENSP00000369769:V136I;ENSP00000396090:V179I	.	V	-	1	0	HSPH1	30624989	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	7.445000	0.80570	2.553000	0.86117	0.591000	0.81541	GTT		0.398	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1		Missense_Mutation	11	479	0	0	0	1	0	11	479				
DIEXF	27042	broad.mit.edu	37	1	210001459	210001459	+	Silent	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:210001459T>A	ENST00000491415.2	+	1	108	c.51T>A	c.(49-51)acT>acA	p.T17T		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	17					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						ACACCCTAACTAAAAAGCAGA	0.547											OREG0014221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000491415.2																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						c.(49-51)acT>acA		digestive organ expansion factor homolog (zebrafish)							80.0	78.0	78.0					1																	210001459		2203	4300	6503	SO:0001819	synonymous_variant	27042				multicellular organismal development	nucleus		g.chr1:210001459T>A	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.51T>A	1.37:g.210001459T>A			OREG0014221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2187		p.T17T	NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN			1	108	+			17					O75992|Q4VY00|Q63HL9	Silent	SNP	ENST00000491415.2	37	c.51T>A	CCDS1493.1																																																																																				0.547	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		4	103	0	0	0	1	0	4	103				
NWD1	284434	broad.mit.edu	37	19	16910759	16910759	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr19:16910759G>A	ENST00000552788.1	+	15	3522	c.3522G>A	c.(3520-3522)gtG>gtA	p.V1174V	NWD1_ENST00000549814.1_Intron|NWD1_ENST00000523826.1_Silent_p.V968V|NWD1_ENST00000339803.6_Silent_p.V1039V|NWD1_ENST00000379808.3_Silent_p.V1174V|NWD1_ENST00000524140.2_Silent_p.V1174V|CTD-2538G9.6_ENST00000601661.1_RNA			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1174							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGGCCCCCGTGAGCCTGCTGG	0.617																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3520-3522)gtG>gtA		NACHT and WD repeat domain containing 1							42.0	44.0	44.0					19																	16910759		2203	4300	6503	SO:0001819	synonymous_variant	284434						ATP binding	g.chr19:16910759G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3522G>A	19.37:g.16910759G>A						NWD1_ENST00000552788.1_Silent_p.V1174V|NWD1_ENST00000549814.1_Intron|NWD1_ENST00000523826.1_Silent_p.V968V|NWD1_ENST00000379808.3_Silent_p.V1174V|NWD1_ENST00000339803.6_Silent_p.V1039V	p.V1174V	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			17	3940	+			1174					C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37	c.3522G>A																																																																																					0.617	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		30	31	0	0	0	1	0	30	31				
PGPEP1L	145814	broad.mit.edu	37	15	99512729	99512729	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:99512729C>T	ENST00000378919.6	-	4	501	c.296G>A	c.(295-297)gGg>gAg	p.G99E	RP11-654A16.3_ENST00000559468.1_RNA|PGPEP1L_ENST00000535714.1_Missense_Mutation_p.G45E	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	99							cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						CATGCAGACCCCTGACTCCAG	0.627																																						ENST00000535714.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						c.(133-135)gGg>gAg		pyroglutamyl-peptidase I-like							128.0	134.0	132.0					15																	99512729		2193	4295	6488	SO:0001583	missense	145814				proteolysis		cysteine-type peptidase activity	g.chr15:99512729C>T		CCDS53977.1, CCDS58400.1	15q26.3	2010-02-16			ENSG00000183571	ENSG00000183571			27080	protein-coding gene	gene with protein product							Standard	NM_001102612		Approved		uc002bum.3	A6NFU8		ENST00000378919.6:c.296G>A	15.37:g.99512729C>T	ENSP00000368199:p.Gly99Glu					RP11-654A16.3_ENST00000559468.1_RNA|PGPEP1L_ENST00000378919.6_Missense_Mutation_p.G99E	p.G45E	NM_001167902.1	NP_001161374.1	A6NFU8	PGPIL_HUMAN			4	939	-			99					H0YF86	Missense_Mutation	SNP	ENST00000378919.6	37	c.134G>A	CCDS53977.1	.	.	.	.	.	.	.	.	.	.	C	0.982	-0.696607	0.03279	.	.	ENSG00000183571	ENST00000378919;ENST00000535714	T	0.39592	1.07	4.37	-7.26	0.01466	.	1.790320	0.02961	N	0.143103	T	0.17152	0.0412	N	0.17594	0.5	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.29458	-1.0011	10	0.02654	T	1	-21.4813	1.3568	0.02184	0.4006:0.1228:0.1101:0.3665	.	99	A6NFU8	PGPIL_HUMAN	E	99;92	ENSP00000368199:G99E	ENSP00000368199:G99E	G	-	2	0	PGPEP1L	97330252	0.000000	0.05858	0.002000	0.10522	0.033000	0.12548	0.106000	0.15354	-1.102000	0.03023	-0.890000	0.02929	GGG		0.627	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415703.1	NM_001102612.2		8	862	0	0	0	1	0	8	862				
OR5H15	403274	broad.mit.edu	37	3	97887879	97887879	+	Silent	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:97887879T>C	ENST00000356526.2	+	1	336	c.336T>C	c.(334-336)tgT>tgC	p.C112C		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C112C(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CCACAGAATGTTTTCTCTTGG	0.378																																						ENST00000356526.2																			1	Substitution - coding silent(1)	p.C112C(1)	lung(1)	NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						c.(334-336)tgT>tgC		olfactory receptor, family 5, subfamily H, member 15							119.0	117.0	117.0					3																	97887879		2203	4298	6501	SO:0001819	synonymous_variant	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97887879T>C		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.336T>C	3.37:g.97887879T>C							p.C112C	NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN			1	336	+			112						Silent	SNP	ENST00000356526.2	37	c.336T>C	CCDS33799.1																																																																																				0.378	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			4	153	0	0	0	1	0	4	153				
FBN2	2201	broad.mit.edu	37	5	127627236	127627236	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr5:127627236C>T	ENST00000508053.1	-	55	7251	c.6277G>A	c.(6277-6279)Gga>Aga	p.G2093R	FBN2_ENST00000262464.4_Missense_Mutation_p.G2093R			P35556	FBN2_HUMAN	fibrillin 2	2093	EGF-like 35; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CATCTCCGTCCATTATCAGAT	0.438																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(6277-6279)Gga>Aga		fibrillin 2							85.0	94.0	91.0					5																	127627236		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127627236C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.6277G>A	5.37:g.127627236C>T	ENSP00000424571:p.Gly2093Arg					FBN2_ENST00000262464.4_Missense_Mutation_p.G2093R	p.G2093R			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	55	7251	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2093			EGF-like 35; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.6277G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678620	0.68042	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.96554	-4.05;-4.05	5.34	5.34	0.76211	Matrix fibril-associated (1);EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000006	D	0.97873	0.9301	M	0.80616	2.505	0.43579	D	0.99591	D	0.54601	0.967	P	0.60949	0.881	D	0.97647	1.0152	10	0.52906	T	0.07	.	19.5946	0.95530	0.0:1.0:0.0:0.0	.	2093	P35556	FBN2_HUMAN	R	2093	ENSP00000262464:G2093R;ENSP00000424571:G2093R	ENSP00000262464:G2093R	G	-	1	0	FBN2	127655135	0.999000	0.42202	0.978000	0.43139	0.747000	0.42532	3.498000	0.53302	2.937000	0.99478	0.650000	0.86243	GGA		0.438	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		21	201	0	0	0	1	0	21	201				
MRC2	9902	broad.mit.edu	37	17	60766001	60766001	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:60766001C>T	ENST00000303375.5	+	22	3603	c.3201C>T	c.(3199-3201)agC>agT	p.S1067S	MRC2_ENST00000446119.2_Missense_Mutation_p.A13V	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1067	C-type lectin 6. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CTGGCCCTAGCCCTGCTCCCA	0.637																																						ENST00000446119.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(37-39)gCc>gTc		mannose receptor, C type 2							60.0	62.0	62.0					17																	60766001		2203	4300	6503	SO:0001819	synonymous_variant	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60766001C>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.3201C>T	17.37:g.60766001C>T						MRC2_ENST00000303375.5_Silent_p.S1067S	p.A13V			Q9UBG0	MRC2_HUMAN			4	1057	+			0					A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.38C>T	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.693950	0.30052	.	.	ENSG00000011028	ENST00000446119	T	0.03358	3.96	4.36	2.37	0.29283	.	.	.	.	.	T	0.03348	0.0097	.	.	.	0.21220	N	0.999758	B	0.02656	0.0	B	0.06405	0.002	T	0.41627	-0.9498	8	0.87932	D	0	-25.6861	4.4249	0.11498	0.2987:0.5293:0.0:0.172	.	13	E7EME3	.	V	13	ENSP00000400445:A13V	ENSP00000400445:A13V	A	+	2	0	MRC2	58119733	0.790000	0.28787	1.000000	0.80357	0.879000	0.50718	0.315000	0.19451	0.468000	0.27243	0.462000	0.41574	GCC		0.637	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			13	140	0	0	0	1	0	13	140				
UBR5	51366	broad.mit.edu	37	8	103293529	103293529	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr8:103293529A>T	ENST00000520539.1	-	41	6521	c.5915T>A	c.(5914-5916)cTa>cAa	p.L1972Q	UBR5_ENST00000220959.4_Missense_Mutation_p.L1972Q|UBR5_ENST00000521922.1_Missense_Mutation_p.L1966Q	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1972					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTTGCGTTCTAGTTGAGGTGT	0.373																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(5914-5916)cTa>cAa		ubiquitin protein ligase E3 component n-recognin 5							104.0	83.0	90.0					8																	103293529		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103293529A>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5915T>A	8.37:g.103293529A>T	ENSP00000429084:p.Leu1972Gln					UBR5_ENST00000521922.1_Missense_Mutation_p.L1966Q|UBR5_ENST00000220959.4_Missense_Mutation_p.L1972Q	p.L1972Q	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		41	6521	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1972					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.5915T>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.323435	0.41096	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.44482	0.92;0.92;0.92	4.73	4.73	0.59995	.	0.137485	0.48286	D	0.000192	T	0.23727	0.0574	N	0.14661	0.345	0.47659	D	0.999485	P;P	0.37864	0.61;0.61	B;B	0.29524	0.103;0.103	T	0.07065	-1.0792	10	0.32370	T	0.25	.	14.21	0.65759	1.0:0.0:0.0:0.0	.	1966;1972	E7EMW7;O95071	.;UBR5_HUMAN	Q	1972;1972;1966	ENSP00000429084:L1972Q;ENSP00000220959:L1972Q;ENSP00000427819:L1966Q	ENSP00000220959:L1972Q	L	-	2	0	UBR5	103362705	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.284000	0.95882	1.747000	0.51819	0.460000	0.39030	CTA		0.373	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		8	192	0	0	0	1	0	8	192				
KLF13	51621	broad.mit.edu	37	15	31664225	31664225	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:31664225T>C	ENST00000307145.3	+	2	948	c.590T>C	c.(589-591)tTc>tCc	p.F197S	KLF13_ENST00000560473.1_Missense_Mutation_p.F9S	NM_015995.2	NP_057079.2	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13	197					negative regulation of cell proliferation (GO:0008285)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)	2		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)		GAGAGGCCCTTCGCCTGCAGC	0.662																																						ENST00000307145.3																			0				NS(1)|breast(1)	2						c.(589-591)tTc>tCc		Kruppel-like factor 13							19.0	18.0	18.0					15																	31664225		2200	4296	6496	SO:0001583	missense	51621				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr15:31664225T>C	AF132599	CCDS10025.1	15q13.3	2013-01-08			ENSG00000169926	ENSG00000169926		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	13672	protein-coding gene	gene with protein product		605328				10415854, 10023774	Standard	NM_015995		Approved	RFLAT-1, BTEB3, NSLP1, FKLF-2	uc001zfo.3	Q9Y2Y9	OTTHUMG00000172224	ENST00000307145.3:c.590T>C	15.37:g.31664225T>C	ENSP00000302456:p.Phe197Ser					KLF13_ENST00000560473.1_Missense_Mutation_p.F9S	p.F197S	NM_015995.2	NP_057079.2	Q9Y2Y9	KLF13_HUMAN		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)	2	948	+		all_lung(180;3.71e-11)	197					Q9Y356	Missense_Mutation	SNP	ENST00000307145.3	37	c.590T>C	CCDS10025.1	.	.	.	.	.	.	.	.	.	.	T	30	5.055255	0.93793	.	.	ENSG00000169926	ENST00000307145	T	0.24908	1.83	5.07	5.07	0.68467	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.54759	0.1878	M	0.82716	2.605	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	T	0.62426	-0.6857	10	0.87932	D	0	.	15.116	0.72404	0.0:0.0:0.0:1.0	.	197	Q9Y2Y9	KLF13_HUMAN	S	197	ENSP00000302456:F197S	ENSP00000302456:F197S	F	+	2	0	KLF13	29451517	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.540000	0.82074	2.036000	0.60181	0.533000	0.62120	TTC		0.662	KLF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251381.1	NM_015995		4	8	0	0	0	1	0	4	8				
SLC26A4	5172	broad.mit.edu	37	7	107315388	107315388	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr7:107315388A>T	ENST00000265715.3	+	6	824		c.e6-1			NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4						chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCCTTATCGTAGTTGATATTT	0.398									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.e6-1		solute carrier family 26 (anion exchanger), member 4							211.0	198.0	202.0					7																	107315388		2203	4300	6503	SO:0001630	splice_region_variant	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107315388A>T	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.601-1A>T	7.37:g.107315388A>T								NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			6	824	+								B7Z266|O43170	Splice_Site	SNP	ENST00000265715.3	37		CCDS5746.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.797617	0.70567	.	.	ENSG00000091137	ENST00000265715	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7942	0.78398	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC26A4	107102624	1.000000	0.71417	0.995000	0.50966	0.749000	0.42624	8.456000	0.90359	2.135000	0.66039	0.528000	0.53228	.		0.398	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441	Intron	6	376	0	0	0	1	0	6	376				
LRIG3	121227	broad.mit.edu	37	12	59284527	59284527	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr12:59284527C>G	ENST00000320743.3	-	4	721	c.435G>C	c.(433-435)caG>caC	p.Q145H	LRIG3_ENST00000379141.4_Missense_Mutation_p.Q85H	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	145					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTTCAAGGGACTGAAACTCTT	0.388			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(433-435)caG>caC		leucine-rich repeats and immunoglobulin-like domains 3							89.0	88.0	88.0					12																	59284527		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59284527C>G	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.435G>C	12.37:g.59284527C>G	ENSP00000326759:p.Gln145His					LRIG3_ENST00000379141.4_Missense_Mutation_p.Q85H	p.Q145H	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		4	721	-			145					Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.435G>C	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900963	0.33535	.	.	ENSG00000139263	ENST00000379141;ENST00000320743;ENST00000552267	T;T;T	0.10099	2.91;2.91;2.91	5.87	-10.7	0.00240	.	0.000000	0.34932	N	0.003566	T	0.11153	0.0272	L	0.48935	1.535	0.25947	N	0.982799	B;D	0.54397	0.014;0.966	B;P	0.55161	0.038;0.77	T	0.06625	-1.0816	9	.	.	.	.	8.9497	0.35781	0.1688:0.2603:0.0:0.5709	.	85;145	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	H	85;145;52	ENSP00000368436:Q85H;ENSP00000326759:Q145H;ENSP00000449109:Q52H	.	Q	-	3	2	LRIG3	57570794	0.000000	0.05858	0.276000	0.24689	0.989000	0.77384	-2.932000	0.00688	-2.071000	0.00880	-0.290000	0.09829	CAG		0.388	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		11	49	0	0	0	1	0	11	49				
NUP210L	91181	broad.mit.edu	37	1	154076585	154076585	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:154076585A>T	ENST00000368559.3	-	13	1793	c.1722T>A	c.(1720-1722)aaT>aaA	p.N574K	NUP210L_ENST00000271854.3_Missense_Mutation_p.N574K|MIR5698_ENST00000577643.1_RNA	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	574					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGGTCTCTTTATTTATGTGAT	0.378																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(1720-1722)aaT>aaA		nucleoporin 210kDa-like							161.0	147.0	151.0					1																	154076585		1860	4103	5963	SO:0001583	missense	91181					integral to membrane		g.chr1:154076585A>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1722T>A	1.37:g.154076585A>T	ENSP00000357547:p.Asn574Lys					NUP210L_ENST00000271854.3_Missense_Mutation_p.N574K	p.N574K	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		13	1793	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		574					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.1722T>A	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	A	1.388	-0.581490	0.03854	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.05258	3.47;3.47	4.7	-0.419	0.12340	.	0.183825	0.38005	N	0.001850	T	0.01287	0.0042	L	0.40543	1.245	0.26104	N	0.98078	P;P	0.35844	0.524;0.524	B;B	0.31946	0.138;0.138	T	0.49293	-0.8955	10	0.26408	T	0.33	-22.3478	5.0929	0.14718	0.3711:0.2979:0.331:0.0	.	574;574	E7EP56;Q5VU65	.;P210L_HUMAN	K	574	ENSP00000357547:N574K;ENSP00000271854:N574K	ENSP00000271854:N574K	N	-	3	2	NUP210L	152343209	0.171000	0.23029	0.742000	0.31022	0.716000	0.41182	-0.386000	0.07370	0.011000	0.14865	0.454000	0.30748	AAT		0.378	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		5	225	0	0	0	1	0	5	225				
ANGEL1	23357	broad.mit.edu	37	14	77275589	77275589	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr14:77275589C>T	ENST00000251089.2	-	2	574	c.462G>A	c.(460-462)tcG>tcA	p.S154S	ANGEL1_ENST00000554941.1_5'UTR	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	154										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		ACTGGGGCTCCGACTGCATGG	0.632																																						ENST00000251089.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22						c.(460-462)tcG>tcA		angel homolog 1 (Drosophila)							32.0	33.0	33.0					14																	77275589		2203	4300	6503	SO:0001819	synonymous_variant	23357							g.chr14:77275589C>T	AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.462G>A	14.37:g.77275589C>T						ANGEL1_ENST00000554941.1_5'UTR	p.S154S	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)	2	574	-			154					B4DWL7|O94859|Q8NCS9	Silent	SNP	ENST00000251089.2	37	c.462G>A	CCDS9852.1																																																																																				0.632	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305		4	39	0	0	0	1	0	4	39				
SC5D	6309	broad.mit.edu	37	11	121177998	121177998	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:121177998C>T	ENST00000392789.2	+	5	914	c.677C>T	c.(676-678)tCa>tTa	p.S226L	SC5D_ENST00000534230.1_Intron|SC5D_ENST00000264027.4_Missense_Mutation_p.S226L	NM_001024956.2	NP_001020127.1	O75845	SC5D_HUMAN	sterol-C5-desaturase	226				PQILQPFINGSAHHTDHHMFFDYNYGQYFTLWDRIGGSFKN PSSFEGKGPLSYVKEMTEGKRSSHSGNGCKNEKLFNGEFTK TE -> RMKNYSMESLQRLNRLLPSYS (in Ref. 1; BAA18970). {ECO:0000305}.	cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via lathosterol (GO:0033490)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	C-5 sterol desaturase activity (GO:0000248)|iron ion binding (GO:0005506)|lathosterol oxidase activity (GO:0050046)										ATTAATGGCTCAGCTCATCAT	0.373																																						ENST00000264027.4																			0											c.(676-678)tCa>tTa		sterol-C5-desaturase							158.0	159.0	159.0					11																	121177998		2203	4299	6502	SO:0001583	missense	6309							g.chr11:121177998C>T		CCDS8435.1	11q23.3	2013-03-04	2013-03-04	2013-03-04	ENSG00000109929	ENSG00000109929	1.14.21.6	"""Fatty acid hydroxylase domain containing"""	10547	protein-coding gene	gene with protein product	"""lathosterol oxidase"""	602286	"""sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like"""	SC5DL		8976377	Standard	NM_006918		Approved		uc001pxu.3	O75845	OTTHUMG00000166068	ENST00000392789.2:c.677C>T	11.37:g.121177998C>T	ENSP00000376539:p.Ser226Leu					SC5D_ENST00000534230.1_Intron|SC5D_ENST00000392789.2_Missense_Mutation_p.S226L	p.S226L	NM_006918.4	NP_008849.2					5	1051	+								O00119|Q6GTM5|Q9UK15	Missense_Mutation	SNP	ENST00000392789.2	37	c.677C>T	CCDS8435.1	.	.	.	.	.	.	.	.	.	.	C	34	5.308534	0.95629	.	.	ENSG00000109929	ENST00000264027;ENST00000392789	D;D	0.84442	-1.85;-1.85	6.02	6.02	0.97574	Fatty acid hydroxylase (1);	0.235555	0.44285	D	0.000474	D	0.92612	0.7653	M	0.86651	2.83	0.58432	D	0.999992	B	0.22746	0.074	P	0.45794	0.493	D	0.90518	0.4486	10	0.87932	D	0	-21.5587	19.3122	0.94192	0.0:1.0:0.0:0.0	.	226	O75845	SC5D_HUMAN	L	226	ENSP00000264027:S226L;ENSP00000376539:S226L	ENSP00000264027:S226L	S	+	2	0	SC5DL	120683208	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.786000	0.85741	2.865000	0.98341	0.655000	0.94253	TCA		0.373	SC5D-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387702.1	NM_001024956		8	331	0	0	0	1	0	8	331				
ZNF462	58499	broad.mit.edu	37	9	109688523	109688523	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr9:109688523T>G	ENST00000277225.5	+	3	2619	c.2330T>G	c.(2329-2331)aTc>aGc	p.I777S	ZNF462_ENST00000457913.1_Missense_Mutation_p.I777S|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	777					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TTCAGAAACATCACCCACGAT	0.468																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2329-2331)aTc>aGc		zinc finger protein 462							86.0	86.0	86.0					9																	109688523		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109688523T>G	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.2330T>G	9.37:g.109688523T>G	ENSP00000277225:p.Ile777Ser					ZNF462_ENST00000457913.1_Missense_Mutation_p.I777S	p.I777S			Q96JM2	ZN462_HUMAN			3	2619	+			777					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.2330T>G	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	T	8.681	0.905207	0.17760	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.05855	3.38;3.83	5.87	5.87	0.94306	.	0.521615	0.21982	N	0.066283	T	0.05273	0.0140	N	0.14661	0.345	0.80722	D	1	B;B	0.20459	0.045;0.01	B;B	0.22753	0.041;0.029	T	0.49466	-0.8937	9	.	.	.	.	16.2847	0.82712	0.0:0.0:0.0:1.0	.	777;777	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	S	777	ENSP00000277225:I777S;ENSP00000414570:I777S	.	I	+	2	0	ZNF462	108728344	0.997000	0.39634	0.451000	0.26982	0.552000	0.35366	6.351000	0.73022	2.242000	0.73789	0.528000	0.53228	ATC		0.468	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		4	197	0	0	0	1	0	4	197				
CACNA1G	8913	broad.mit.edu	37	17	48677037	48677037	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:48677037G>T	ENST00000359106.5	+	17	3507	c.3507G>T	c.(3505-3507)aaG>aaT	p.K1169N	CACNA1G_ENST00000505165.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.K1146N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.K1146N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.K1146N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.K1146N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000352832.5_Missense_Mutation_p.K1146N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.K1169N	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1169					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGAGGCCAAGAGTTCCTTTG	0.642																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(3436-3438)aaG>aaT		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						30.0	39.0	36.0					17																	48677037		2088	4209	6297	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48677037G>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.3507G>T	17.37:g.48677037G>T	ENSP00000352011:p.Lys1169Asn					CACNA1G_ENST00000514181.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.K1146N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.K1146N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.K1169N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.K1146N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.K1146N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.K1169N	p.K1146N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		16	3810	+	Breast(11;6.7e-17)		1169					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.3438G>T	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	16.05	3.013533	0.54468	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97041	-4.09;-4.09;-4.22;-4.04;-4.08;-4.09;-4.11;-4.17;-4.16;-4.16;-4.18;-4.04;-4.06;-4.12;-4.06;-4.03;-4.1;-4.05;-4.04;-4.1;-4.09;-4.06;-4.1;-4.04;-4.1;-4.11	4.47	3.42	0.39159	.	0.438355	0.22661	N	0.057200	D	0.96150	0.8745	L	0.29908	0.895	0.38270	D	0.942113	D;P;P;D;D;D;D;D;D;P;D;P;P;D;D;B;P;D;D;B;D;P;D;B;P;D	0.67145	0.994;0.645;0.893;0.991;0.992;0.995;0.995;0.986;0.995;0.61;0.973;0.758;0.645;0.973;0.996;0.243;0.949;0.996;0.974;0.354;0.993;0.645;0.992;0.389;0.808;0.97	D;B;B;D;P;P;D;P;D;B;P;P;B;P;D;B;P;D;P;B;D;P;P;B;B;P	0.79108	0.985;0.368;0.427;0.992;0.765;0.882;0.989;0.765;0.989;0.277;0.585;0.572;0.368;0.585;0.918;0.065;0.694;0.925;0.722;0.101;0.977;0.468;0.711;0.147;0.242;0.839	D	0.94970	0.8116	10	0.52906	T	0.07	.	7.0814	0.25234	0.2152:0.0:0.7848:0.0	.	1146;1169;1169;1169;1169;1169;1169;1169;1169;1169;1169;1146;1169;1169;1169;1169;1169;1146;1169;1146;1146;1146;1146;1169;1146;1169	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	N	1146;1146;1169;1146;1146;1146;1169;1169;1146;1169;1169;1169;1169;1169;1169;1146;1169;1169;1169;1169;1146;1169;1169;1169;1169;1169	ENSP00000353990:K1146N;ENSP00000339302:K1146N;ENSP00000392390:K1169N;ENSP00000347078:K1146N;ENSP00000409759:K1146N;ENSP00000425522:K1146N;ENSP00000426261:K1169N;ENSP00000425451:K1169N;ENSP00000422407:K1146N;ENSP00000426814:K1169N;ENSP00000427238:K1169N;ENSP00000423112:K1169N;ENSP00000420918:K1169N;ENSP00000426172:K1169N;ENSP00000423045:K1169N;ENSP00000427173:K1146N;ENSP00000426098:K1169N;ENSP00000425698:K1169N;ENSP00000426232:K1169N;ENSP00000423317:K1169N;ENSP00000350979:K1146N;ENSP00000352011:K1169N;ENSP00000414388:K1169N;ENSP00000423155:K1169N;ENSP00000422268:K1169N;ENSP00000421518:K1169N	ENSP00000339302:K1146N	K	+	3	2	CACNA1G	46032036	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	2.152000	0.42272	2.322000	0.78497	0.561000	0.74099	AAG		0.642	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		5	22	1	0	5.9392e-07	1	6.60231e-07	5	22				
FRYL	285527	broad.mit.edu	37	4	48523234	48523234	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr4:48523234T>A	ENST00000503238.1	-	52	7521		c.e52-2		FRYL_ENST00000537810.1_Splice_Site|FRYL_ENST00000507873.2_Splice_Site|FRYL_ENST00000358350.4_Splice_Site|FRYL_ENST00000264319.7_Splice_Site			O94915	FRYL_HUMAN	FRY-like						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ACTGTTTAACTAAAAAGAGAA	0.373																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.e55-2		FRY-like							83.0	77.0	79.0					4																	48523234		1846	4091	5937	SO:0001630	splice_region_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48523234T>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.7522-2A>T	4.37:g.48523234T>A						FRYL_ENST00000264319.7_Splice_Site|FRYL_ENST00000537810.1_Splice_Site|FRYL_ENST00000507873.2_Splice_Site|FRYL_ENST00000503238.1_Splice_Site		NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			55	8126	-								O95640|Q8WTZ5|Q9NT40	Splice_Site	SNP	ENST00000503238.1	37		CCDS43227.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.743302	0.49151	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000514617	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7555	0.78021	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FRYL	48217991	1.000000	0.71417	0.198000	0.23420	0.024000	0.10985	7.698000	0.84413	2.126000	0.65437	0.460000	0.39030	.		0.373	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		Intron	7	90	0	0	0	1	0	7	90				
TNFRSF11B	4982	broad.mit.edu	37	8	119938760	119938760	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr8:119938760G>C	ENST00000297350.4	-	4	1168	c.790C>G	c.(790-792)Caa>Gaa	p.Q264E		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	264	Death 1.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			ACTATATCTTGGTCTTTGTTT	0.358																																						ENST00000297350.4																			0				breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25						c.(790-792)Caa>Gaa		tumor necrosis factor receptor superfamily, member 11b							211.0	202.0	205.0					8																	119938760		2203	4299	6502	SO:0001583	missense	4982				apoptosis|skeletal system development		cytokine activity|receptor activity	g.chr8:119938760G>C	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.790C>G	8.37:g.119938760G>C	ENSP00000297350:p.Gln264Glu						p.Q264E	NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	STAD - Stomach adenocarcinoma(47;0.00193)		4	1168	-	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		264			Death 1.		B2R9A8|O60236|Q53FX6|Q9UHP4	Missense_Mutation	SNP	ENST00000297350.4	37	c.790C>G	CCDS6326.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.210254	0.58343	.	.	ENSG00000164761	ENST00000297350	D	0.93307	-3.2	5.73	5.73	0.89815	DEATH-like (2);	0.145183	0.47093	D	0.000244	D	0.89904	0.6850	L	0.61218	1.895	0.39016	D	0.959648	P	0.39782	0.688	B	0.27262	0.078	D	0.89910	0.4051	9	.	.	.	-14.0254	14.7188	0.69289	0.0:0.0:0.8553:0.1447	.	264	O00300	TR11B_HUMAN	E	264	ENSP00000297350:Q264E	.	Q	-	1	0	TNFRSF11B	120007941	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	6.310000	0.72830	2.721000	0.93114	0.655000	0.94253	CAA		0.358	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			43	100	0	0	0	1	0	43	100				
PLIN2	123	broad.mit.edu	37	9	19126128	19126128	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr9:19126128C>A	ENST00000276914.2	-	3	389	c.210G>T	c.(208-210)caG>caT	p.Q70H	PLIN2_ENST00000411567.1_Missense_Mutation_p.Q70H|PLIN2_ENST00000380464.3_Missense_Mutation_p.Q70H|PLIN2_ENST00000380465.3_Missense_Mutation_p.Q70H	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	70					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						GCTCTAGCTTCTGGATGATGG	0.532																																						ENST00000276914.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						c.(208-210)caG>caT		perilipin 2							122.0	103.0	109.0					9																	19126128		2203	4300	6503	SO:0001583	missense	123				cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle		g.chr9:19126128C>A	X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"""Perilipins"""	248	protein-coding gene	gene with protein product	"""adipophilin"""	103195	"""adipose differentiation-related protein"""	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.210G>T	9.37:g.19126128C>A	ENSP00000276914:p.Gln70His					PLIN2_ENST00000380464.3_Missense_Mutation_p.Q70H|PLIN2_ENST00000411567.1_Missense_Mutation_p.Q70H|PLIN2_ENST00000380465.3_Missense_Mutation_p.Q70H	p.Q70H	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN			3	389	-			70					Q9BSC3	Missense_Mutation	SNP	ENST00000276914.2	37	c.210G>T	CCDS6490.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.946502	0.34377	.	.	ENSG00000147872	ENST00000411567;ENST00000276914;ENST00000434144;ENST00000380465;ENST00000380464	T;T;T;T;T	0.05925	3.37;3.37;3.37;3.37;3.37	5.54	2.6	0.31112	.	0.296956	0.38778	N	0.001567	T	0.04952	0.0133	L	0.35487	1.065	0.32574	N	0.529398	B;B	0.25272	0.122;0.01	B;B	0.24974	0.057;0.026	T	0.20075	-1.0286	10	0.36615	T	0.2	.	5.829	0.18570	0.0:0.5394:0.2589:0.2017	.	70;70	E9PG83;Q99541	.;PLIN2_HUMAN	H	70	ENSP00000415270:Q70H;ENSP00000276914:Q70H;ENSP00000403421:Q70H;ENSP00000369832:Q70H;ENSP00000369831:Q70H	ENSP00000276914:Q70H	Q	-	3	2	PLIN2	19116128	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.237000	0.32695	0.245000	0.21373	0.561000	0.74099	CAG		0.532	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1	NM_001122		16	353	1	0	2.35188e-11	1	2.76195e-11	16	353				
SPRED1	161742	broad.mit.edu	37	15	38631947	38631947	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:38631947G>C	ENST00000299084.4	+	5	1293	c.433G>C	c.(433-435)Gag>Cag	p.E145Q		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	145					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GGCAAATGAAGAGGATTCTTC	0.388									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)	ENST00000299084.4																			0				kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(433-435)Gag>Cag		sprouty-related, EVH1 domain containing 1							105.0	101.0	102.0					15																	38631947		2200	4297	6497	SO:0001583	missense	161742	Legius syndrome	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding	g.chr15:38631947G>C	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.433G>C	15.37:g.38631947G>C	ENSP00000299084:p.Glu145Gln						p.E145Q	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	5	1293	+		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)	145					B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	ENST00000299084.4	37	c.433G>C	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655752	0.67586	.	.	ENSG00000166068	ENST00000299084	T	0.73789	-0.78	4.6	4.6	0.57074	.	0.461649	0.24866	N	0.034980	T	0.75019	0.3793	L	0.53249	1.67	0.48087	D	0.999584	D	0.60160	0.987	P	0.50352	0.638	T	0.71692	-0.4516	10	0.17369	T	0.5	-5.5179	15.9561	0.79889	0.0:0.0:1.0:0.0	.	145	Q7Z699	SPRE1_HUMAN	Q	145	ENSP00000299084:E145Q	ENSP00000299084:E145Q	E	+	1	0	SPRED1	36419239	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.338000	0.72963	2.265000	0.75225	0.585000	0.79938	GAG		0.388	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1			3	91	0	0	0	1	0	3	91				
TG	7038	broad.mit.edu	37	8	133931619	133931619	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr8:133931619A>T	ENST00000220616.4	+	21	4418		c.e21-1		TG_ENST00000542445.1_5'Flank|TG_ENST00000377869.1_Splice_Site	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin						hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTTTTTTTCTAGTTAAGTGTC	0.418																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.e21-1		thyroglobulin							71.0	65.0	67.0					8																	133931619		2203	4300	6503	SO:0001630	splice_region_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133931619A>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4379-1A>T	8.37:g.133931619A>T						TG_ENST00000377869.1_Splice_Site		NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	21	4418	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)						O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Splice_Site	SNP	ENST00000220616.4	37		CCDS34944.1	.	.	.	.	.	.	.	.	.	.	A	9.738	1.164036	0.21538	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3216	0.54987	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TG	134000801	1.000000	0.71417	0.712000	0.30502	0.161000	0.22273	5.922000	0.70036	2.225000	0.72522	0.533000	0.62120	.		0.418	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	Intron	6	90	0	0	0	1	0	6	90				
SYTL1	84958	broad.mit.edu	37	1	27680218	27680218	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:27680218C>T	ENST00000543823.1	+	14	2026	c.1564C>T	c.(1564-1566)Ctg>Ttg	p.L522L	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Silent_p.L510L			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	522					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CAGCTATGGGCTGCAGGTGCC	0.617																																						ENST00000543823.1																			0				NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12						c.(1564-1566)Ctg>Ttg		synaptotagmin-like 1							38.0	37.0	38.0					1																	27680218		2203	4300	6503	SO:0001819	synonymous_variant	84958				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding	g.chr1:27680218C>T	AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.1564C>T	1.37:g.27680218C>T						SYTL1_ENST00000318074.5_Silent_p.L510L|SYTL1_ENST00000490170.1_3'UTR	p.L522L			Q8IYJ3	SYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	14	2026	+		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)	522					Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Silent	SNP	ENST00000543823.1	37	c.1564C>T	CCDS53286.1																																																																																				0.617	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032872		3	36	0	0	0	1	0	3	36				
HAT1	8520	broad.mit.edu	37	2	172841199	172841199	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:172841199C>T	ENST00000264108.4	+	9	963	c.927C>T	c.(925-927)ttC>ttT	p.F309F	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Silent_p.F224F	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	309					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TGCAAGGATTCAATGAAGATA	0.333																																						ENST00000264108.4																			0				breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19						c.(925-927)ttC>ttT		histone acetyltransferase 1							68.0	67.0	67.0					2																	172841199		2203	4300	6503	SO:0001819	synonymous_variant	8520				chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding	g.chr2:172841199C>T	AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"""	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.927C>T	2.37:g.172841199C>T						HAT1_ENST00000392584.1_Silent_p.F224F|SLC25A12_ENST00000472748.1_Intron	p.F309F	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		9	963	+			309					Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Silent	SNP	ENST00000264108.4	37	c.927C>T	CCDS2245.1																																																																																				0.333	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1	NM_003642		3	54	0	0	0	1	0	3	54				
MT-ND6	4541	broad.mit.edu	37	M	14556	14556	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chrM:14556A>G	ENST00000361681.2	-	1	117	c.118T>C	c.(118-120)Tgt>Cgt	p.C40R	MT-TP_ENST00000387461.2_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA			P03923	NU6M_HUMAN	mitochondrially encoded NADH dehydrogenase 6	40					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						AATAATAACACACCCGACCAC	0.393																																						ENST00000361681.2																			0				breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						c.(118-120)Tgt>Cgt		mitochondrially encoded NADH dehydrogenase 6																																				SO:0001583	missense	4541							g.chrM:14556A>G			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198695	ENSG00000198695	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7462	protein-coding gene	gene with protein product	"""complex I ND6 subunit"", ""NADH-ubiquinone oxidoreductase chain 6"""	516006	"""NADH dehydrogenase 6"""	MTND6			Standard			Approved	NAD6, ND6		P03923		ENST00000361681.2:c.118T>C	M.37:g.14556A>G	ENSP00000354665:p.Cys40Arg						p.C40R							1	117	-								Q34774|Q8HG30	Missense_Mutation	SNP	ENST00000361681.2	37	c.118T>C																																																																																					0.393	MT-ND6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024037		18	0	0	0	0	1	0	18	0				
ARHGEF7	8874	broad.mit.edu	37	13	111933013	111933013	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr13:111933013C>T	ENST00000375741.2	+	16	2027	c.1777C>T	c.(1777-1779)Cca>Tca	p.P593S	ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.P415S|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.P572S|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.P415S|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.P337S|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.P490S|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.P415S|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.P415S|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.P543S|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.P500S	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	593					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCATTCAGTGCCATCTCATAC	0.532																																						ENST00000375741.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41						c.(1777-1779)Cca>Tca		Rho guanine nucleotide exchange factor (GEF) 7							205.0	154.0	171.0					13																	111933013		2203	4300	6503	SO:0001583	missense	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111933013C>T	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.1777C>T	13.37:g.111933013C>T	ENSP00000364893:p.Pro593Ser					ARHGEF7_ENST00000426073.2_Missense_Mutation_p.P415S|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.P543S|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.P415S|ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.P500S|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.P415S|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.P337S|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.P415S|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.P572S|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.P490S	p.P593S	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		16	2027	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		593					B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	c.1777C>T	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	C	8.182	0.793976	0.16327	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000466143;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	T;T;T;T;T;T;T;T;T;T;T	0.61980	0.67;0.68;0.68;0.67;0.72;0.64;0.67;0.67;0.71;0.62;0.06	4.97	4.13	0.48395	.	0.054847	0.85682	D	0.000000	T	0.67730	0.2924	L	0.51422	1.61	0.80722	D	1	B;B;D;B;P	0.89917	0.112;0.046;1.0;0.22;0.51	B;B;D;B;B	0.91635	0.023;0.019;0.999;0.034;0.279	T	0.63998	-0.6510	10	0.12430	T	0.62	.	8.0573	0.30612	0.1578:0.762:0.0:0.0801	.	337;490;543;593;572	E9PDQ5;B7Z6G2;Q14155-2;Q14155;Q14155-3	.;.;.;ARHG7_HUMAN;.	S	572;593;543;500;570;415;415;415;415;490;415;337	ENSP00000325994:P572S;ENSP00000364893:P593S;ENSP00000364891:P543S;ENSP00000359657:P500S;ENSP00000418067:P415S;ENSP00000218789:P415S;ENSP00000364888:P415S;ENSP00000397068:P415S;ENSP00000364889:P490S;ENSP00000364875:P415S;ENSP00000417596:P337S	ENSP00000218789:P415S	P	+	1	0	ARHGEF7	110731014	1.000000	0.71417	0.016000	0.15963	0.003000	0.03518	6.912000	0.75753	1.081000	0.41110	0.650000	0.86243	CCA		0.532	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		5	414	0	0	0	1	0	5	414				
USP2	9099	broad.mit.edu	37	11	119244139	119244139	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:119244139T>C	ENST00000260187.2	-	2	346	c.52A>G	c.(52-54)Aca>Gca	p.T18A	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	18	Necessary for interaction with MDM4.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TGGGCATCTGTGTAGCGGGCC	0.582																																						ENST00000260187.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24						c.(52-54)Aca>Gca		ubiquitin specific peptidase 2							49.0	35.0	40.0					11																	119244139		2198	4293	6491	SO:0001583	missense	9099				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	g.chr11:119244139T>C	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"""Ubiquitin-specific peptidases"""	12618	protein-coding gene	gene with protein product		604725	"""ubiquitin specific protease 2"""			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.52A>G	11.37:g.119244139T>C	ENSP00000260187:p.Thr18Ala					USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA	p.T18A	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	2	346	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	18			Necessary for interaction with MDM4.		B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	ENST00000260187.2	37	c.52A>G	CCDS8422.1	.	.	.	.	.	.	.	.	.	.	T	10.26	1.300869	0.23650	.	.	ENSG00000036672	ENST00000260187;ENST00000531070;ENST00000527843	T	0.18960	2.18	5.37	4.17	0.49024	.	0.156326	0.44483	D	0.000445	T	0.09862	0.0242	N	0.12182	0.205	0.80722	D	1	B	0.17465	0.022	B	0.14023	0.01	T	0.15093	-1.0449	10	0.39692	T	0.17	-2.9024	3.7815	0.08682	0.1895:0.1012:0.0:0.7092	.	18	O75604	UBP2_HUMAN	A	18	ENSP00000260187:T18A	ENSP00000260187:T18A	T	-	1	0	USP2	118749349	0.998000	0.40836	1.000000	0.80357	0.807000	0.45602	0.329000	0.19698	2.028000	0.59812	0.459000	0.35465	ACA		0.582	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		3	45	0	0	0	1	0	3	45				
SASH1	23328	broad.mit.edu	37	6	148854029	148854029	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:148854029C>T	ENST00000367467.3	+	14	2136	c.1661C>T	c.(1660-1662)cCg>cTg	p.P554L		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	554					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TACCGAGGCCCGTTCTGCGGG	0.592																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1660-1662)cCg>cTg		SAM and SH3 domain containing 1							128.0	123.0	125.0					6																	148854029		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148854029C>T	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1661C>T	6.37:g.148854029C>T	ENSP00000356437:p.Pro554Leu						p.P554L	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	14	2136	+		Ovarian(120;0.0169)	554					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.1661C>T	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624530	0.87560	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.53640	0.61	4.86	4.86	0.63082	Src homology-3 domain (1);	0.051845	0.85682	D	0.000000	T	0.65852	0.2731	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70673	-0.4807	10	0.87932	D	0	-23.3941	18.2189	0.89895	0.0:1.0:0.0:0.0	.	535;554	Q6P4R9;O94885	.;SASH1_HUMAN	L	554;315	ENSP00000356437:P554L	ENSP00000356437:P554L	P	+	2	0	SASH1	148895722	1.000000	0.71417	0.997000	0.53966	0.516000	0.34256	7.278000	0.78587	2.537000	0.85549	0.655000	0.94253	CCG		0.592	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		4	202	0	0	0	1	0	4	202				
GRPR	2925	broad.mit.edu	37	X	16168712	16168712	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chrX:16168712T>A	ENST00000380289.2	+	2	1096	c.698T>A	c.(697-699)aTt>aAt	p.I233N	RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA|RP11-431J24.2_ENST00000422438.1_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	233					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TACTACTTCATTGCTAAAAAT	0.428																																						ENST00000380289.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25						c.(697-699)aTt>aAt		gastrin-releasing peptide receptor							130.0	109.0	116.0					X																	16168712		2203	4300	6503	SO:0001583	missense	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16168712T>A		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.698T>A	X.37:g.16168712T>A	ENSP00000369643:p.Ile233Asn						p.I233N	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN			2	1096	+	Hepatocellular(33;0.183)		233					B2R910	Missense_Mutation	SNP	ENST00000380289.2	37	c.698T>A	CCDS14174.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.347457	0.82022	.	.	ENSG00000126010	ENST00000380289;ENST00000535371	T	0.58060	0.36	5.63	5.63	0.86233	GPCR, rhodopsin-like superfamily (1);	0.049654	0.85682	D	0.000000	T	0.79799	0.4508	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85534	0.1211	10	0.87932	D	0	-12.0435	13.8962	0.63773	0.0:0.0:0.0:1.0	.	233	P30550	GRPR_HUMAN	N	233;22	ENSP00000369643:I233N	ENSP00000369643:I233N	I	+	2	0	GRPR	16078633	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	1.878000	0.54408	0.486000	0.48141	ATT		0.428	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		5	104	0	0	0	1	0	5	104				
FBXL5	26234	broad.mit.edu	37	4	15613936	15613936	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr4:15613936C>T	ENST00000341285.3	-	10	2076	c.1952G>A	c.(1951-1953)tGt>tAt	p.C651Y	FBXL5_ENST00000382358.4_Missense_Mutation_p.C525Y|FBXL5_ENST00000412094.2_Missense_Mutation_p.C634Y	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	651					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CAGAGAAGGACATGCTGAAAC	0.383																																						ENST00000341285.3																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(1951-1953)tGt>tAt		F-box and leucine-rich repeat protein 5							80.0	76.0	77.0					4																	15613936		2203	4300	6503	SO:0001583	missense	26234				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity	g.chr4:15613936C>T	AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"""F-boxes / Leucine-rich repeats"""	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.1952G>A	4.37:g.15613936C>T	ENSP00000344866:p.Cys651Tyr					FBXL5_ENST00000382358.4_Missense_Mutation_p.C525Y|FBXL5_ENST00000412094.2_Missense_Mutation_p.C634Y	p.C651Y	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN			10	2076	-			651					A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	c.1952G>A	CCDS3415.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.841391|4.841391	0.91197|0.91197	.|.	.|.	ENSG00000118564|ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358|ENST00000513163	T;T;T|.	0.19938|.	2.11;2.11;2.11|.	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	0.042743|.	0.85682|.	D|.	0.000000|.	D|D	0.83161|0.83161	0.5194|0.5194	M|M	0.83603|0.83603	2.65|2.65	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.998|.	D;D|.	0.68943|.	0.961;0.915|.	T|T	0.82737|0.82737	-0.0309|-0.0309	10|5	0.87932|.	D|.	0|.	-16.9487|-16.9487	20.452|20.452	0.99131|0.99131	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	634;651|.	Q9UKA1-2;Q9UKA1|.	.;FBXL5_HUMAN|.	Y|I	651;634;525|571	ENSP00000344866:C651Y;ENSP00000408679:C634Y;ENSP00000371795:C525Y|.	ENSP00000344866:C651Y|.	C|M	-|-	2|3	0|0	FBXL5|FBXL5	15223034|15223034	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.851000|0.851000	0.48451|0.48451	7.818000|7.818000	0.86416|0.86416	2.838000|2.838000	0.97847|0.97847	0.591000|0.591000	0.81541|0.81541	TGT|ATG		0.383	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2			3	46	0	0	0	1	0	3	46				
MYCBP2	23077	broad.mit.edu	37	13	77798620	77798620	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr13:77798620G>T	ENST00000544440.2	-	20	2808	c.2791C>A	c.(2791-2793)Cat>Aat	p.H931N	MYCBP2_ENST00000357337.6_Missense_Mutation_p.H931N|MYCBP2_ENST00000407578.2_Missense_Mutation_p.H969N|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGCTGCCCATGCTGCCCATAA	0.348																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(2905-2907)Cat>Aat		MYC binding protein 2, E3 ubiquitin protein ligase							118.0	112.0	114.0					13																	77798620		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77798620G>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.2791C>A	13.37:g.77798620G>T	ENSP00000444596:p.His931Asn					MYCBP2_ENST00000544440.2_Missense_Mutation_p.H931N|MYCBP2_ENST00000357337.6_Missense_Mutation_p.H931N|MYCBP2_ENST00000360084.5_5'UTR	p.H969N	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	20	3171	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	931						Missense_Mutation	SNP	ENST00000544440.2	37	c.2905C>A		.	.	.	.	.	.	.	.	.	.	G	25.0	4.589402	0.86851	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	D;D;D	0.84730	-1.89;-1.89;-1.89	5.61	5.61	0.85477	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.88716	0.6512	L	0.31664	0.95	0.80722	D	1	P	0.49559	0.925	D	0.67900	0.954	D	0.89201	0.3557	10	0.59425	D	0.04	.	19.6419	0.95762	0.0:0.0:1.0:0.0	.	931	O75592	MYCB2_HUMAN	N	931;969;931	ENSP00000349892:H931N;ENSP00000384288:H969N;ENSP00000444596:H931N	ENSP00000349892:H931N	H	-	1	0	MYCBP2	76696621	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.474000	0.97718	2.640000	0.89533	0.655000	0.94253	CAT		0.348	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		43	110	1	0	9.0599e-49	1	1.13373e-48	43	110				
RICTOR	253260	broad.mit.edu	37	5	38945658	38945658	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr5:38945658C>G	ENST00000357387.3	-	34	4598	c.4568G>C	c.(4567-4569)tGt>tCt	p.C1523S	RICTOR_ENST00000296782.5_Missense_Mutation_p.C1547S	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AATACAGACACAATAAAGGCA	0.403																																						ENST00000357387.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(4567-4569)tGt>tCt		RPTOR independent companion of MTOR, complex 2							161.0	145.0	151.0					5																	38945658		2203	4300	6503	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38945658C>G		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.4568G>C	5.37:g.38945658C>G	ENSP00000349959:p.Cys1523Ser					RICTOR_ENST00000296782.5_Missense_Mutation_p.C1547S	p.C1523S	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN			34	4598	-	all_lung(31;0.000396)		1523						Missense_Mutation	SNP	ENST00000357387.3	37	c.4568G>C	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986732	0.93106	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.66280	-0.15;-0.2	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.79281	0.4419	M	0.68593	2.085	0.80722	D	1	D;D	0.61080	0.989;0.989	D;D	0.75020	0.985;0.985	T	0.79478	-0.1787	10	0.87932	D	0	-13.4599	20.3242	0.98691	0.0:1.0:0.0:0.0	.	1523;1547	Q6R327;Q6R327-3	RICTR_HUMAN;.	S	1523;1547	ENSP00000349959:C1523S;ENSP00000296782:C1547S	ENSP00000296782:C1547S	C	-	2	0	RICTOR	38981415	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.903000	0.75703	2.882000	0.98803	0.655000	0.94253	TGT		0.403	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		20	53	0	0	0	1	0	20	53				
TACC2	10579	broad.mit.edu	37	10	123984267	123984267	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr10:123984267A>G	ENST00000369005.1	+	12	7913	c.7573A>G	c.(7573-7575)Att>Gtt	p.I2525V	TACC2_ENST00000515273.1_Missense_Mutation_p.I2529V|TACC2_ENST00000360561.3_Missense_Mutation_p.I603V|TACC2_ENST00000358010.1_Missense_Mutation_p.I671V|TACC2_ENST00000515603.1_Missense_Mutation_p.I2480V|TACC2_ENST00000369001.1_Missense_Mutation_p.I229V|TACC2_ENST00000369004.3_Missense_Mutation_p.I615V|TACC2_ENST00000368999.1_Missense_Mutation_p.I615V|TACC2_ENST00000513429.1_Missense_Mutation_p.I671V|TACC2_ENST00000260733.3_Missense_Mutation_p.I603V|TACC2_ENST00000334433.3_Missense_Mutation_p.I2525V|TACC2_ENST00000369000.1_Missense_Mutation_p.I225V|TACC2_ENST00000453444.2_Missense_Mutation_p.I2529V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2525					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTCCTATGAAATTGAATATAT	0.443																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(7573-7575)Att>Gtt		transforming, acidic coiled-coil containing protein 2							132.0	153.0	146.0					10																	123984267		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123984267A>G	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7573A>G	10.37:g.123984267A>G	ENSP00000358001:p.Ile2525Val					TACC2_ENST00000369001.1_Missense_Mutation_p.I229V|TACC2_ENST00000368999.1_Missense_Mutation_p.I615V|TACC2_ENST00000369000.1_Missense_Mutation_p.I225V|TACC2_ENST00000334433.3_Missense_Mutation_p.I2525V|TACC2_ENST00000515603.1_Missense_Mutation_p.I2480V|TACC2_ENST00000260733.3_Missense_Mutation_p.I603V|TACC2_ENST00000513429.1_Missense_Mutation_p.I671V|TACC2_ENST00000369004.3_Missense_Mutation_p.I615V|TACC2_ENST00000360561.3_Missense_Mutation_p.I603V|TACC2_ENST00000358010.1_Missense_Mutation_p.I671V|TACC2_ENST00000515273.1_Missense_Mutation_p.I2529V|TACC2_ENST00000453444.2_Missense_Mutation_p.I2529V	p.I2525V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			12	7913	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2525					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.7573A>G	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.277758	0.80692	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000496913;ENST00000508411	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.27256	3.56;3.19;3.6;3.53;3.56;3.19;3.6;1.68;1.68;3.03;2.99;2.94;3.06;2.65;1.87	5.5	5.5	0.81552	.	0.000000	0.37393	N	0.002117	T	0.44603	0.1301	L	0.53249	1.67	0.45676	D	0.998595	D;D;P;D;D;D;D;D;D;D	0.71674	0.998;0.983;0.943;0.992;0.983;0.995;0.99;0.99;0.99;0.992	D;D;D;D;D;D;D;D;D;D	0.81914	0.995;0.977;0.946;0.99;0.977;0.99;0.99;0.99;0.99;0.992	T	0.19031	-1.0318	10	0.20046	T	0.44	-4.5936	15.6011	0.76626	1.0:0.0:0.0:0.0	.	620;2529;615;2480;2529;603;603;225;671;2525	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;.;TACC2_HUMAN	V	2525;671;2529;2480;2525;671;2529;2515;229;225;603;615;615;603;620;260;136	ENSP00000358001:I2525V;ENSP00000425062:I671V;ENSP00000424467:I2529V;ENSP00000427618:I2480V;ENSP00000334280:I2525V;ENSP00000350701:I671V;ENSP00000395048:I2529V;ENSP00000357997:I229V;ENSP00000357996:I225V;ENSP00000353763:I603V;ENSP00000357995:I615V;ENSP00000422815:I615V;ENSP00000260733:I603V;ENSP00000420967:I620V;ENSP00000422725:I260V	ENSP00000260733:I603V	I	+	1	0	TACC2	123974257	1.000000	0.71417	0.990000	0.47175	0.993000	0.82548	7.603000	0.82811	2.078000	0.62432	0.533000	0.62120	ATT		0.443	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			7	154	0	0	0	1	0	7	154				
ADAM11	4185	broad.mit.edu	37	17	42850678	42850678	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:42850678C>T	ENST00000200557.6	+	11	1044	c.875C>T	c.(874-876)aCa>aTa	p.T292I	ADAM11_ENST00000535346.1_Missense_Mutation_p.T92I	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	292	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GCCATGGAAACATGGGCAGAT	0.612																																						ENST00000200557.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(874-876)aCa>aTa		ADAM metallopeptidase domain 11							130.0	116.0	121.0					17																	42850678		2203	4300	6503	SO:0001583	missense	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42850678C>T	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.875C>T	17.37:g.42850678C>T	ENSP00000200557:p.Thr292Ile					ADAM11_ENST00000535346.1_Missense_Mutation_p.T92I	p.T292I	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN			11	1044	+		Prostate(33;0.0959)	292			Peptidase M12B.		Q14808|Q14809|Q14810	Missense_Mutation	SNP	ENST00000200557.6	37	c.875C>T	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803121	0.50315	.	.	ENSG00000073670	ENST00000200557;ENST00000535346;ENST00000355638	T;T	0.57273	0.41;0.41	4.77	4.77	0.60923	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.48750	0.1517	N	0.08118	0	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.972;1.0	T	0.38714	-0.9648	10	0.02654	T	1	.	16.7331	0.85440	0.0:1.0:0.0:0.0	.	92;292	B4DKD2;O75078	.;ADA11_HUMAN	I	292;92;192	ENSP00000200557:T292I;ENSP00000443773:T92I	ENSP00000200557:T292I	T	+	2	0	ADAM11	40206204	1.000000	0.71417	0.993000	0.49108	0.011000	0.07611	7.630000	0.83225	2.478000	0.83669	0.561000	0.74099	ACA		0.612	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390		17	62	0	0	0	1	0	17	62				
CDK5RAP3	80279	broad.mit.edu	37	17	46058626	46058626	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:46058626G>T	ENST00000338399.4	+	13	1487	c.1381G>T	c.(1381-1383)Gca>Tca	p.A461S	RP11-6N17.10_ENST00000578239.1_RNA|CDK5RAP3_ENST00000536708.2_Missense_Mutation_p.A486S|CDK5RAP3_ENST00000578663.1_3'UTR	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	461					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						GCAGCAGGAGGCACTTGAGGA	0.567																																						ENST00000536708.2																			0				NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						c.(1456-1458)Gca>Tca		CDK5 regulatory subunit associated protein 3							45.0	47.0	47.0					17																	46058626		1982	4164	6146	SO:0001583	missense	80279				brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding	g.chr17:46058626G>T	AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"""ischemic heart CDK5 activator-binding protein C53"", ""LXXLL/leucine-zipper-containing ARFbinding protein"""	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.1381G>T	17.37:g.46058626G>T	ENSP00000344683:p.Ala461Ser					CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.A461S|CDK5RAP3_ENST00000578663.1_3'UTR|RP11-6N17.10_ENST00000578239.1_RNA	p.A486S	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN			13	1565	+			461					B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Missense_Mutation	SNP	ENST00000338399.4	37	c.1456G>T	CCDS42356.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901757	0.92035	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	T;T	0.50548	0.74;0.74	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.72795	0.3505	M	0.87269	2.87	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.77004	0.982;0.983;0.989;0.983	T	0.72443	-0.4292	10	0.31617	T	0.26	-24.7275	18.2722	0.90072	0.0:0.0:1.0:0.0	.	486;374;461;236	F5H3I5;Q96JB5-2;Q96JB5;Q96JB5-3	.;.;CK5P3_HUMAN;.	S	486;461	ENSP00000438886:A486S;ENSP00000344683:A461S	ENSP00000344683:A461S	A	+	1	0	CDK5RAP3	43413625	1.000000	0.71417	0.977000	0.42913	0.950000	0.60333	8.981000	0.93465	2.612000	0.88384	0.655000	0.94253	GCA		0.567	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096		6	157	1	0	1.26484e-09	1	1.46288e-09	6	157				
OPN4	94233	broad.mit.edu	37	10	88421113	88421113	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr10:88421113C>T	ENST00000241891.5	+	7	1208	c.1041C>T	c.(1039-1041)ccC>ccT	p.P347P	OPN4_ENST00000372071.2_Silent_p.P358P	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	347					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						TCCACAACCCCATCATTTACG	0.612																																						ENST00000372071.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						c.(1072-1074)ccC>ccT		opsin 4							258.0	183.0	208.0					10																	88421113		2203	4300	6503	SO:0001819	synonymous_variant	94233				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	g.chr10:88421113C>T	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"""GPCR / Class A : Opsin receptors"""	14449	protein-coding gene	gene with protein product	"""melanopsin"""	606665	"""opsin 4 (melanopsin)"""			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.1041C>T	10.37:g.88421113C>T						OPN4_ENST00000241891.5_Silent_p.P347P	p.P358P	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN			8	1301	+			347					B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Silent	SNP	ENST00000241891.5	37	c.1074C>T	CCDS7376.1																																																																																				0.612	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		64	128	0	0	0	1	0	64	128				
IQGAP3	128239	broad.mit.edu	37	1	156509711	156509711	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:156509711G>C	ENST00000361170.2	-	24	2821	c.2811C>G	c.(2809-2811)gaC>gaG	p.D937E	IQGAP3_ENST00000498755.1_5'Flank	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	937					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTTCTGCTTGTCCAGAACCA	0.498																																						ENST00000361170.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(2809-2811)gaC>gaG		IQ motif containing GTPase activating protein 3							192.0	175.0	181.0					1																	156509711		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156509711G>C	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.2811C>G	1.37:g.156509711G>C	ENSP00000354451:p.Asp937Glu						p.D937E	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			24	2821	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		937					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.2811C>G	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187233	0.38609	.	.	ENSG00000183856	ENST00000361170	T	0.02472	4.28	4.83	2.96	0.34315	.	0.056365	0.64402	D	0.000001	T	0.02418	0.0074	N	0.25647	0.755	0.38982	D	0.958972	D	0.64830	0.994	D	0.72625	0.978	T	0.59408	-0.7460	10	0.32370	T	0.25	-27.326	6.716	0.23304	0.2858:0.0:0.7142:0.0	.	937	Q86VI3	IQGA3_HUMAN	E	937	ENSP00000354451:D937E	ENSP00000354451:D937E	D	-	3	2	IQGAP3	154776335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.730000	0.55006	0.628000	0.30357	0.551000	0.68910	GAC		0.498	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		84	219	0	0	0	1	0	84	219				
SNW1	22938	broad.mit.edu	37	14	78184631	78184631	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr14:78184631T>A	ENST00000261531.7	-	14	1475		c.e14-2		SNW1_ENST00000554775.1_Splice_Site|SLIRP_ENST00000557623.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.L497F|SLIRP_ENST00000557431.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1						cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GGAACAAATCTAAGGAAAAGG	0.428																																						ENST00000555761.1																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1489-1491)ttA>ttT		SNW domain containing 1							125.0	133.0	130.0					14																	78184631		2203	4300	6503	SO:0001630	splice_region_variant	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78184631T>A	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.1413-2A>T	14.37:g.78184631T>A						SLIRP_ENST00000557623.1_Intron|SNW1_ENST00000554775.1_Splice_Site|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000261531.7_Splice_Site	p.L497F			Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	13	1519	-			0					A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	37	c.1491A>T	CCDS9867.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.94|17.94	3.512282|3.512282	0.64522|0.64522	.|.	.|.	ENSG00000100603|ENSG00000100603	ENST00000261531;ENST00000554775|ENST00000555761	.|.	.|.	.|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|.	.|.	.|.	.|.	.|T	.|0.41419	.|0.1158	.|.	.|.	.|.	0.30353|0.30353	N|N	0.784591|0.784591	.|B	.|0.31351	.|0.32	.|B	.|0.34991	.|0.193	.|T	.|0.40572	.|-0.9556	.|6	.|.	.|.	.|.	.|.	15.6694|15.6694	0.77262|0.77262	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|497	.|G3V3A4	.|.	.|F	-1|497	.|.	.|.	.|L	-|-	.|3	.|2	SNW1|SNW1	77254384|77254384	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.951000|0.951000	0.60555|0.60555	7.420000|7.420000	0.80191|0.80191	2.173000|2.173000	0.68751|0.68751	0.377000|0.377000	0.23210|0.23210	.|TTA		0.428	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245	Intron	5	223	0	0	0	1	0	5	223				
CACNB2	783	broad.mit.edu	37	10	18787304	18787304	+	Silent	SNP	G	G	A	rs182163363	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr10:18787304G>A	ENST00000324631.7	+	4	414	c.354G>A	c.(352-354)gcG>gcA	p.A118A	CACNB2_ENST00000377315.4_Silent_p.A70A|CACNB2_ENST00000377329.4_Silent_p.A64A|CACNB2_ENST00000282343.8_Silent_p.A90A|CACNB2_ENST00000352115.6_Silent_p.A118A|CACNB2_ENST00000377328.1_Silent_p.A118A|CACNB2_ENST00000377319.3_Silent_p.A63A|CACNB2_ENST00000396576.2_Silent_p.A63A|CACNB2_ENST00000377331.2_Silent_p.A90A	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	118	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTGCATTTGCGGTTCGGACAA	0.448													G|||	8	0.00159744	0.0008	0.0029	5008	,	,		19158	0.0		0.0	False		,,,				2504	0.0051					ENST00000396576.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(187-189)gcG>gcA		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)	G	,,,,,,,,	0,4406		0,0,2203	116.0	102.0	107.0		189,270,210,270,270,192,354,354,354	-7.9	1.0	10		107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNB2	NM_000724.3,NM_001167945.1,NM_201570.2,NM_201571.3,NM_201572.3,NM_201590.2,NM_201593.2,NM_201596.2,NM_201597.2	,,,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,,,	63/606,90/595,70/613,90/633,90/609,64/607,118/623,118/661,118/637	18787304	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18787304G>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.354G>A	10.37:g.18787304G>A						CACNB2_ENST00000377331.2_Silent_p.A90A|CACNB2_ENST00000352115.6_Silent_p.A118A|CACNB2_ENST00000377329.4_Silent_p.A64A|CACNB2_ENST00000324631.7_Silent_p.A118A|CACNB2_ENST00000282343.8_Silent_p.A90A|CACNB2_ENST00000377315.4_Silent_p.A70A|CACNB2_ENST00000377319.3_Silent_p.A63A|CACNB2_ENST00000377328.1_Silent_p.A118A	p.A63A	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN			3	690	+			118					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Silent	SNP	ENST00000324631.7	37	c.189G>A	CCDS7125.1																																																																																				0.448	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		3	91	0	0	0	1	0	3	91				
SLC22A1	6580	broad.mit.edu	37	6	160560786	160560786	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:160560786C>T	ENST00000366963.4	+	7	1310	c.1163C>T	c.(1162-1164)cCg>cTg	p.P388L	SLC22A1_ENST00000324965.4_Missense_Mutation_p.P388L|SLC22A1_ENST00000457470.2_Missense_Mutation_p.P388L	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	388					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	GTCGAAATCCCGGGGGCCTTC	0.587																																						ENST00000366963.4																		SLC22A1/CUTA(2)	0				breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21						c.(1162-1164)cCg>cTg		solute carrier family 22 (organic cation transporter), member 1							60.0	62.0	61.0					6																	160560786		2203	4300	6503	SO:0001583	missense	6580					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding	g.chr6:160560786C>T	U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"""Solute carriers"""	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.1163C>T	6.37:g.160560786C>T	ENSP00000355930:p.Pro388Leu					SLC22A1_ENST00000457470.2_Missense_Mutation_p.P388L|SLC22A1_ENST00000324965.4_Missense_Mutation_p.P388L	p.P388L	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	7	1310	+		Breast(66;0.000776)|Ovarian(120;0.00556)	388					A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	Missense_Mutation	SNP	ENST00000366963.4	37	c.1163C>T	CCDS5274.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289601	0.59976	.	.	ENSG00000175003	ENST00000366963;ENST00000324965;ENST00000457470	T;T;T	0.54675	0.56;0.56;0.56	5.08	5.08	0.68730	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.76702	0.4024	M	0.92833	3.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83449	0.0047	10	0.87932	D	0	.	18.4653	0.90752	0.0:1.0:0.0:0.0	.	388;388	O15245-2;O15245	.;S22A1_HUMAN	L	388	ENSP00000355930:P388L;ENSP00000318103:P388L;ENSP00000409557:P388L	ENSP00000318103:P388L	P	+	2	0	SLC22A1	160480776	1.000000	0.71417	0.002000	0.10522	0.007000	0.05969	7.082000	0.76851	2.346000	0.79739	0.561000	0.74099	CCG		0.587	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042938.2			4	70	0	0	0	1	0	4	70				
FNDC3B	64778	broad.mit.edu	37	3	172115263	172115263	+	Nonstop_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:172115263T>A	ENST00000336824.4	+	26	3712	c.3613T>A	c.(3613-3615)Taa>Aaa	p.*1205K	FNDC3B_ENST00000416957.1_Nonstop_Mutation_p.*1205K|FNDC3B_ENST00000415807.2_Nonstop_Mutation_p.*1205K	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	0					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CTTAATGAAGTAAACCCAACA	0.328																																						ENST00000336824.4																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69						c.(3613-3615)Taa>Aaa		fibronectin type III domain containing 3B							94.0	85.0	88.0					3																	172115263		2203	4300	6503	SO:0001578	stop_lost	64778					endoplasmic reticulum|integral to membrane		g.chr3:172115263T>A	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.3613T>A	3.37:g.172115263T>A	ENSP00000338523:p.*1205Lysext*5					FNDC3B_ENST00000415807.2_Nonstop_Mutation_p.*1205K|FNDC3B_ENST00000416957.1_Nonstop_Mutation_p.*1205K	p.*1205K	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	26	3712	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		0					B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Nonstop_Mutation	SNP	ENST00000336824.4	37	c.3613T>A	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.847738	0.71603	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	.	.	.	5.62	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2419	0.48974	0.0:0.0715:0.0:0.9285	.	.	.	.	K	1205	.	.	X	+	1	0	FNDC3B	173597957	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.588000	0.82629	0.973000	0.38340	0.383000	0.25322	TAA		0.328	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		4	105	0	0	0	1	0	4	105				
RP11-478B9.1	0	broad.mit.edu	37	12	45457510	45457510	+	RNA	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr12:45457510C>T	ENST00000548424.1	+	0	448																											TTCTCTGCTCCACTATTGAGA	0.488																																						ENST00000548424.1																			0																																																			0							g.chr12:45457510C>T																													12.37:g.45457510C>T														0	448	+									RNA	SNP	ENST00000548424.1	37																																																																																						0.488	RP11-478B9.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000404811.1			6	119	0	0	0	1	0	6	119				
TCOF1	6949	broad.mit.edu	37	5	149769510	149769510	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr5:149769510G>T	ENST00000504761.2	+	19	3107	c.3107G>T	c.(3106-3108)aGc>aTc	p.S1036I	TCOF1_ENST00000439160.2_Missense_Mutation_p.S1036I|TCOF1_ENST00000513346.1_Missense_Mutation_p.S1073I|TCOF1_ENST00000451292.1_Missense_Mutation_p.S1073I|TCOF1_ENST00000377797.3_Missense_Mutation_p.S1036I|TCOF1_ENST00000445265.2_Missense_Mutation_p.S959I|TCOF1_ENST00000323668.7_Missense_Mutation_p.S959I			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1036					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCAAAGCCAGCATGGCTGGG	0.582																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(3217-3219)aGc>aTc		Treacher Collins-Franceschetti syndrome 1							59.0	55.0	57.0					5																	149769510		2203	4300	6503	SO:0001583	missense	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149769510G>T		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3107G>T	5.37:g.149769510G>T	ENSP00000421655:p.Ser1036Ile					TCOF1_ENST00000513346.1_Missense_Mutation_p.S1073I|TCOF1_ENST00000504761.2_Missense_Mutation_p.S1036I|TCOF1_ENST00000377797.3_Missense_Mutation_p.S1036I|TCOF1_ENST00000445265.2_Missense_Mutation_p.S959I|TCOF1_ENST00000439160.2_Missense_Mutation_p.S1036I|TCOF1_ENST00000323668.7_Missense_Mutation_p.S959I	p.S1073I			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		20	3326	+		all_hematologic(541;0.224)	1036					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	c.3218G>T	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419195	0.25552	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T	0.76578	-0.98;-0.96;-0.96;-0.96;-0.62;-1.03;-0.96;-0.95	2.22	1.33	0.21861	.	.	.	.	.	T	0.69744	0.3145	L	0.48642	1.525	0.09310	N	1	P;P;P;D;P	0.54772	0.902;0.902;0.902;0.968;0.902	P;P;P;P;P	0.44811	0.461;0.461;0.461;0.452;0.461	T	0.61053	-0.7140	9	0.72032	D	0.01	.	4.989	0.14205	0.1799:0.0:0.8201:0.0	.	1036;959;1036;1036;959	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;TCOF_HUMAN;.	I	1073;1036;959;959;1036;1036;1036;1073	ENSP00000400939:S1073I;ENSP00000367028:S1036I;ENSP00000409944:S959I;ENSP00000325223:S959I;ENSP00000406888:S1036I;ENSP00000390717:S1036I;ENSP00000421655:S1036I;ENSP00000427484:S1073I	ENSP00000325223:S959I	S	+	2	0	TCOF1	149749703	0.012000	0.17670	0.035000	0.18076	0.007000	0.05969	0.692000	0.25482	0.486000	0.27676	-0.157000	0.13467	AGC		0.582	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		42	37	1	0	2.54085e-39	1	3.16225e-39	42	37				
PRKDC	5591	broad.mit.edu	37	8	48840368	48840368	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr8:48840368A>G	ENST00000314191.2	-	20	2278	c.2222T>C	c.(2221-2223)aTt>aCt	p.I741T	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.I741T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	741					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ATCGAGTTCAATGATGTTGTG	0.448								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(2221-2223)aTt>aCt	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							125.0	131.0	129.0					8																	48840368		2024	4172	6196	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48840368A>G		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.2222T>C	8.37:g.48840368A>G	ENSP00000313420:p.Ile741Thr					PRKDC_ENST00000338368.3_Missense_Mutation_p.I741T|PRKDC_ENST00000523565.1_5'UTR	p.I741T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			20	2278	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	741					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.2222T>C		.	.	.	.	.	.	.	.	.	.	A	16.46	3.129763	0.56721	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02863	4.2;4.13	5.35	5.35	0.76521	Armadillo-type fold (1);	0.225114	0.37809	N	0.001933	T	0.12178	0.0296	.	.	.	0.47584	D	0.999462	D;D;D	0.59357	0.985;0.975;0.975	P;P;P	0.59171	0.853;0.717;0.717	T	0.00200	-1.1927	9	0.87932	D	0	.	15.6202	0.76799	1.0:0.0:0.0:0.0	.	741;741;741	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	T	741	ENSP00000313420:I741T;ENSP00000345182:I741T	ENSP00000313420:I741T	I	-	2	0	PRKDC	49002921	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	8.655000	0.91098	2.145000	0.66743	0.460000	0.39030	ATT		0.448	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		57	56	0	0	0	1	0	57	56				
CDH7	1005	broad.mit.edu	37	18	63547747	63547747	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr18:63547747G>T	ENST00000397968.2	+	12	2401	c.1975G>T	c.(1975-1977)Gga>Tga	p.G659*	CDH7_ENST00000323011.3_Nonsense_Mutation_p.G659*	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	659					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CGAGGGCGGGGGAGAGGAGGA	0.478																																						ENST00000397968.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(1975-1977)Gga>Tga		cadherin 7, type 2							71.0	73.0	72.0					18																	63547747		2203	4300	6503	SO:0001587	stop_gained	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63547747G>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1975G>T	18.37:g.63547747G>T	ENSP00000381058:p.Gly659*					CDH7_ENST00000323011.3_Nonsense_Mutation_p.G659*	p.G659*	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN			12	2401	+		Esophageal squamous(42;0.129)	659					Q9H157	Nonsense_Mutation	SNP	ENST00000397968.2	37	c.1975G>T	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	38	6.816877	0.97861	.	.	ENSG00000081138	ENST00000323011;ENST00000397966;ENST00000397968	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6378	0.95744	0.0:0.0:1.0:0.0	.	.	.	.	X	659	.	ENSP00000319166:G659X	G	+	1	0	CDH7	61698727	1.000000	0.71417	0.647000	0.29507	0.077000	0.17291	9.869000	0.99810	2.631000	0.89168	0.655000	0.94253	GGA		0.478	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		4	38	1	0	0.0293803	1	0.0300362	4	38				
EHMT1	79813	broad.mit.edu	37	9	140611120	140611120	+	Missense_Mutation	SNP	C	C	G	rs386739686|rs79514677	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr9:140611120C>G	ENST00000460843.1	+	3	155	c.128C>G	c.(127-129)gCa>gGa	p.A43G	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.A12G|EHMT1_ENST00000462484.1_Missense_Mutation_p.A43G	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	43			A -> V (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.A12V(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GAGAAACAGGCAGGAGAGGCC	0.562													c|||	116	0.0231629	0.0817	0.0086	5008	,	,		17796	0.0		0.002	False		,,,				2504	0.0					ENST00000460843.1																			1	Substitution - Missense(1)	p.A12V(1)	breast(1)	breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(127-129)gCa>gGa		euchromatic histone-lysine N-methyltransferase 1			GLY/ALA,GLY/ALA	284,4122	143.1+/-178.2	17,250,1936	82.0	84.0	83.0		128,128	1.7	0.1	9	dbSNP_131	83	6,8590	3.0+/-9.4	0,6,4292	yes	missense,missense	EHMT1	NM_001145527.1,NM_024757.4	60,60	17,256,6228	GG,GC,CC		0.0698,6.4458,2.2304	benign,benign	43/809,43/1299	140611120	290,12712	2203	4298	6501	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140611120C>G	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.128C>G	9.37:g.140611120C>G	ENSP00000417980:p.Ala43Gly					EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.A12G|EHMT1_ENST00000462484.1_Missense_Mutation_p.A43G	p.A43G	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	3	155	+	all_cancers(76;0.164)		43		A -> V (in a breast cancer sample; somatic mutation).			B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.128C>G	CCDS7050.2	45	0.020604395604395604	42	0.08536585365853659	3	0.008287292817679558	0	0.0	0	0.0	c	7.126	0.578990	0.13686	0.064458	6.98E-4	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.69435	1.68;0.95;-0.4	5.61	1.67	0.24075	.	0.289408	0.28577	N	0.014860	T	0.00784	0.0026	N	0.00347	-1.61	0.09310	N	0.999993	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.12553	-1.0543	10	0.15952	T	0.53	.	2.6562	0.05013	0.0941:0.341:0.2974:0.2674	.	43;12;43	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	G	12;12;43;43	ENSP00000334476:A12G;ENSP00000417328:A43G;ENSP00000417980:A43G	ENSP00000334476:A12G	A	+	2	0	EHMT1	139730941	0.494000	0.26043	0.069000	0.20011	0.980000	0.70556	0.641000	0.24720	0.049000	0.15920	0.546000	0.68486	GCA		0.562	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		3	3	0	0	0	1	0	3	3				
ZKSCAN2	342357	broad.mit.edu	37	16	25255401	25255401	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr16:25255401G>A	ENST00000328086.7	-	6	2489	c.1686C>T	c.(1684-1686)cgC>cgT	p.R562R		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	562					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TTTTCACCTTGCGGTAACTCT	0.542																																						ENST00000328086.7																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(1684-1686)cgC>cgT		zinc finger with KRAB and SCAN domains 2							93.0	91.0	91.0					16																	25255401		2197	4300	6497	SO:0001819	synonymous_variant	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25255401G>A	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1686C>T	16.37:g.25255401G>A							p.R562R	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	6	2489	-			562					A1L3B4|Q6ZN77	Silent	SNP	ENST00000328086.7	37	c.1686C>T	CCDS32410.1																																																																																				0.542	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		4	199	0	0	0	1	0	4	199				
TRIM33	51592	broad.mit.edu	37	1	115007012	115007012	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:115007012T>A	ENST00000358465.2	-	2	610		c.e2-2		TRIM33_ENST00000369543.2_Splice_Site|TRIM33_ENST00000450349.2_5'Flank	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33						gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTACACCAACTACAACATAAA	0.353			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.e2-2		tripartite motif containing 33							82.0	80.0	81.0					1																	115007012		2203	4300	6503	SO:0001630	splice_region_variant	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:115007012T>A	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.527-2A>T	1.37:g.115007012T>A						TRIM33_ENST00000369543.2_Splice_Site		NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	610	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)						O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Splice_Site	SNP	ENST00000358465.2	37		CCDS872.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.336493	0.81801	.	.	ENSG00000197323	ENST00000358465;ENST00000369543	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8211	0.78644	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRIM33	114808535	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.838000	0.69388	2.216000	0.71823	0.533000	0.62120	.		0.353	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906	Intron	6	135	0	0	0	1	0	6	135				
APIP	51074	broad.mit.edu	37	11	34909879	34909879	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:34909879A>T	ENST00000395787.3	-	5	636	c.422T>A	c.(421-423)aTa>aAa	p.I141K	APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Missense_Mutation_p.I158K	NM_015957.2	NP_057041.2			APAF1 interacting protein											kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			TATTCCTTTTATCATCTCTTG	0.353																																						ENST00000395787.3																			0				kidney(2)|lung(1)|skin(1)	4						c.(421-423)aTa>aAa		APAF1 interacting protein							75.0	75.0	75.0					11																	34909879		2202	4298	6500	SO:0001583	missense	51074				apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity	g.chr11:34909879A>T	AF132963	CCDS7895.1	11p13	2014-05-12				ENSG00000149089	4.2.1.109		17581	protein-coding gene	gene with protein product	"""methylthioribulose-1-phosphate dehydratase"""	612491				10810093, 15262985, 24367089	Standard	NM_015957		Approved	CGI-29, Mmrp19, APIP2	uc001mvs.2	Q96GX9		ENST00000395787.3:c.422T>A	11.37:g.34909879A>T	ENSP00000379133:p.Ile141Lys					APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Missense_Mutation_p.I158K	p.I141K	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	STAD - Stomach adenocarcinoma(6;0.000425)		5	636	-	all_epithelial(35;0.161)	all_hematologic(20;0.107)	141						Missense_Mutation	SNP	ENST00000395787.3	37	c.422T>A	CCDS7895.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.781699	0.90282	.	.	ENSG00000149089	ENST00000278359;ENST00000395787	T;T	0.23950	1.88;1.88	5.7	5.7	0.88788	Class II aldolase/adducin, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.61110	0.2321	M	0.92833	3.35	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.75020	0.985;0.969	T	0.71919	-0.4447	10	0.87932	D	0	-31.2675	15.9707	0.80013	1.0:0.0:0.0:0.0	.	158;141	B4DY17;Q96GX9	.;MTNB_HUMAN	K	158;141	ENSP00000278359:I158K;ENSP00000379133:I141K	ENSP00000278359:I158K	I	-	2	0	APIP	34866455	1.000000	0.71417	0.991000	0.47740	0.990000	0.78478	8.896000	0.92521	2.177000	0.69029	0.459000	0.35465	ATA		0.353	APIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389864.1	NM_015957		5	128	0	0	0	1	0	5	128				
ELOVL5	60481	broad.mit.edu	37	6	53133936	53133936	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:53133936G>T	ENST00000542638.1	-	8	1336	c.889C>A	c.(889-891)Cgg>Agg	p.R297R	ELOVL5_ENST00000370918.4_Silent_p.R287R|ELOVL5_ENST00000304434.6_Silent_p.R297R|ELOVL5_ENST00000541407.1_Silent_p.R324R			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	297					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					CAATCCTTCCGCAGCTTCCTT	0.478																																						ENST00000542638.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(889-891)Cgg>Agg		ELOVL fatty acid elongase 5							186.0	152.0	163.0					6																	53133936		2203	4300	6503	SO:0001819	synonymous_variant	60481				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:53133936G>T	AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"""ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"", ""spinocerebellar ataxia 38"""	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.889C>A	6.37:g.53133936G>T						ELOVL5_ENST00000541407.1_Silent_p.R324R|ELOVL5_ENST00000370918.4_Silent_p.R287R|ELOVL5_ENST00000304434.6_Silent_p.R297R	p.R297R			Q9NYP7	ELOV5_HUMAN			8	1336	-	Lung NSC(77;0.116)		297					B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Silent	SNP	ENST00000542638.1	37	c.889C>A	CCDS4951.1																																																																																				0.478	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043566.1	NM_021814		12	784	1	0	4.3838e-07	1	4.92103e-07	12	784				
FAM129A	116496	broad.mit.edu	37	1	184801098	184801098	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:184801098T>A	ENST00000367511.3	-	6	795		c.e6-2		FAM129A_ENST00000487074.1_Splice_Site	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A						negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCATGTAATCTAAAGAAAAGA	0.408																																						ENST00000367511.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.e6-2		family with sequence similarity 129, member A							57.0	58.0	57.0					1																	184801098		2203	4300	6503	SO:0001630	splice_region_variant	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184801098T>A	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.602-2A>T	1.37:g.184801098T>A						FAM129A_ENST00000487074.1_Splice_Site		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN			6	795	-								Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Splice_Site	SNP	ENST00000367511.3	37		CCDS1364.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.653291	0.67472	.	.	ENSG00000135842	ENST00000367511	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1381	0.65300	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM129A	183067721	1.000000	0.71417	0.960000	0.40013	0.715000	0.41141	6.165000	0.71891	2.209000	0.71365	0.533000	0.62120	.		0.408	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1		Intron	5	125	0	0	0	1	0	5	125				
KPNA4	3840	broad.mit.edu	37	3	160285898	160285898	+	5'Flank	SNP	C	C	T	rs4679895	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:160285898C>T	ENST00000334256.4	-	0	0				KPNA4_ENST00000469804.1_5'Flank|KRT8P12_ENST00000468527.1_RNA	NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)						cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ACTCCAACATCCAGGCTGTAT	0.562													c|||	1434	0.286342	0.1725	0.3732	5008	,	,		21214	0.1825		0.4443	False		,,,				2504	0.3231					ENST00000468527.1																			0																																																	SO:0001631	upstream_gene_variant	90133							g.chr3:160285898C>T	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033		3.37:g.160285898C>T	Exception_encountered													0	909	+								A8K4S6|D3DNM2|O00190	RNA	SNP	ENST00000334256.4	37		CCDS3191.1																																																																																				0.562	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		3	59	0	0	0	1	0	3	59				
CNGA2	1260	broad.mit.edu	37	X	150912404	150912404	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chrX:150912404C>T	ENST00000329903.4	+	6	1462	c.1429C>T	c.(1429-1431)Cct>Tct	p.P477S		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	477					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCttcagtcctggggatta	0.517																																						ENST00000329903.4																			0				breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49						c.(1429-1431)Cct>Tct		cyclic nucleotide gated channel alpha 2							116.0	100.0	106.0					X																	150912404		2203	4300	6503	SO:0001583	missense	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150912404C>T	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1429C>T	X.37:g.150912404C>T	ENSP00000328478:p.Pro477Ser						p.P477S	NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN			6	1462	+	Acute lymphoblastic leukemia(192;6.56e-05)		477					A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.1429C>T	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354940	0.41700	.	.	ENSG00000183862	ENST00000329903	D	0.97430	-4.38	5.33	5.33	0.75918	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.98523	0.9507	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99719	1.1009	10	0.87932	D	0	.	15.3498	0.74373	0.0:1.0:0.0:0.0	.	477	Q16280	CNGA2_HUMAN	S	477	ENSP00000328478:P477S	ENSP00000328478:P477S	P	+	1	0	CNGA2	150663060	1.000000	0.71417	0.998000	0.56505	0.352000	0.29268	7.487000	0.81328	2.216000	0.71823	0.529000	0.55759	CCT		0.517	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		12	299	0	0	0	1	0	12	299				
FABP12	646486	broad.mit.edu	37	8	82441764	82441764	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr8:82441764A>T	ENST00000360464.4	-	2	217	c.155T>A	c.(154-156)aTa>aAa	p.I52K	RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	52							lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(3)	4						TTTGGTTTTTATTGTGATGAC	0.443																																						ENST00000360464.4																			0				large_intestine(1)|lung(3)	4						c.(154-156)aTa>aAa		fatty acid binding protein 12							125.0	116.0	119.0					8																	82441764		1847	4096	5943	SO:0001583	missense	646486						lipid binding|transporter activity	g.chr8:82441764A>T		CCDS47882.1	8q21.13	2013-03-01			ENSG00000197416	ENSG00000197416		"""Fatty acid binding protein family"""	34524	protein-coding gene	gene with protein product						18786628	Standard	NM_001105281		Approved		uc011lfp.2	A6NFH5	OTTHUMG00000164679	ENST00000360464.4:c.155T>A	8.37:g.82441764A>T	ENSP00000353650:p.Ile52Lys					RP11-257P3.3_ENST00000523380.1_RNA	p.I52K	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN			2	217	-			52					B7SUN0	Missense_Mutation	SNP	ENST00000360464.4	37	c.155T>A	CCDS47882.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.072616	0.76415	.	.	ENSG00000197416	ENST00000360464	T	0.09163	3.01	4.71	4.71	0.59529	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.154165	0.56097	D	0.000029	T	0.43322	0.1242	M	0.93638	3.44	0.54753	D	0.999984	D	0.76494	0.999	D	0.87578	0.998	T	0.58476	-0.7630	10	0.87932	D	0	.	14.3401	0.66619	1.0:0.0:0.0:0.0	.	52	A6NFH5	FBP12_HUMAN	K	52	ENSP00000353650:I52K	ENSP00000353650:I52K	I	-	2	0	FABP12	82604319	1.000000	0.71417	0.979000	0.43373	0.647000	0.38526	7.271000	0.78506	1.971000	0.57363	0.533000	0.62120	ATA		0.443	FABP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379720.1	NM_001105281		4	94	0	0	0	1	0	4	94				
SLC9A9	285195	broad.mit.edu	37	3	142985628	142985628	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:142985628C>A	ENST00000316549.6	-	16	2062	c.1854G>T	c.(1852-1854)aaG>aaT	p.K618N		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	618					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.K618K(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						AAATGTTTTCCTTGCCTGGCG	0.502																																						ENST00000316549.6																			1	Substitution - coding silent(1)	p.K618K(1)	skin(1)	breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						c.(1852-1854)aaG>aaT		solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9							152.0	141.0	144.0					3																	142985628		2203	4300	6503	SO:0001583	missense	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:142985628C>A	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1854G>T	3.37:g.142985628C>A	ENSP00000320246:p.Lys618Asn						p.K618N	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN			16	2062	-			618					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	c.1854G>T	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810172	0.50421	.	.	ENSG00000181804	ENST00000316549	T	0.57107	0.42	5.69	1.9	0.25705	.	0.134405	0.51477	D	0.000089	T	0.50051	0.1593	L	0.57536	1.79	0.38561	D	0.9497	P	0.48162	0.906	P	0.46585	0.521	T	0.49744	-0.8907	10	0.36615	T	0.2	.	9.4857	0.38928	0.0:0.5947:0.0:0.4053	.	618	Q8IVB4	SL9A9_HUMAN	N	618	ENSP00000320246:K618N	ENSP00000320246:K618N	K	-	3	2	SLC9A9	144468318	0.821000	0.29204	0.999000	0.59377	0.811000	0.45836	-0.252000	0.08806	0.350000	0.24002	-0.157000	0.13467	AAG		0.502	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		21	183	1	0	6.44725e-10	1	7.49452e-10	21	183				
SIGLEC10	89790	broad.mit.edu	37	19	51918835	51918835	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr19:51918835T>G	ENST00000339313.5	-	6	1175	c.1059A>C	c.(1057-1059)caA>caC	p.Q353H	CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.Q205H|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.Q353H|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.Q270H|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.Q295H|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.Q353H|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.Q295H|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.Q263H|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.Q305H			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	353	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TCCTGTTTGCTTGGGAAACCA	0.597																																						ENST00000353836.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1057-1059)caA>caC		sialic acid binding Ig-like lectin 10							145.0	142.0	143.0					19																	51918835		2203	4300	6503	SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51918835T>G	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1059A>C	19.37:g.51918835T>G	ENSP00000345243:p.Gln353His					SIGLEC10_ENST00000356298.5_Missense_Mutation_p.Q353H|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.Q205H|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.Q295H|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.Q263H|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.Q353H|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.Q305H|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.Q295H|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.Q270H	p.Q353H	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	6	1280	-		all_neural(266;0.0199)	353			Ig-like C2-type 3.		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	c.1059A>C	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	0.049	-1.256186	0.01457	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313	T;T;T;T;T;T;T;T;T	0.53206	0.89;2.11;1.5;0.79;1.93;1.68;0.63;1.88;0.79	3.49	-2.57	0.06248	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.373740	0.04901	N	0.451377	T	0.38506	0.1043	L	0.47716	1.5	0.09310	N	1	B;P;B;B;B;B;B;B	0.37824	0.058;0.609;0.124;0.216;0.196;0.096;0.098;0.147	B;B;B;B;B;B;B;B	0.41135	0.033;0.119;0.078;0.348;0.162;0.072;0.077;0.068	T	0.21895	-1.0232	10	0.38643	T	0.18	.	0.9144	0.01301	0.1666:0.3124:0.1714:0.3495	.	305;263;353;205;353;295;295;353	C9JM10;E9PL79;B7ZL04;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;.;SIG10_HUMAN	H	353;270;205;353;295;263;295;305;353	ENSP00000342389:Q353H;ENSP00000396742:Q270H;ENSP00000395475:Q205H;ENSP00000348646:Q353H;ENSP00000408387:Q295H;ENSP00000431444:Q263H;ENSP00000389132:Q295H;ENSP00000414324:Q305H;ENSP00000345243:Q353H	ENSP00000345243:Q353H	Q	-	3	2	SIGLEC10	56610647	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.170000	0.03118	-0.718000	0.04949	-0.374000	0.07098	CAA		0.597	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		9	478	0	0	0	1	0	9	478				
FOXRED2	80020	broad.mit.edu	37	22	36892016	36892016	+	Missense_Mutation	SNP	G	G	T	rs376453305		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr22:36892016G>T	ENST00000397224.4	-	7	1715	c.1622C>A	c.(1621-1623)aCc>aAc	p.T541N	FOXRED2_ENST00000366463.3_Missense_Mutation_p.T93N|FOXRED2_ENST00000216187.6_Missense_Mutation_p.T541N|FOXRED2_ENST00000397223.4_Missense_Mutation_p.T541N	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	541					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTGCTCACCGGTGGGGAGGTA	0.542																																						ENST00000397224.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1621-1623)aCc>aAc		FAD-dependent oxidoreductase domain containing 2							96.0	92.0	94.0					22																	36892016		2203	4300	6503	SO:0001583	missense	80020				ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chr22:36892016G>T	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1622C>A	22.37:g.36892016G>T	ENSP00000380401:p.Thr541Asn					FOXRED2_ENST00000366463.3_Missense_Mutation_p.T93N|FOXRED2_ENST00000397223.4_Missense_Mutation_p.T541N|FOXRED2_ENST00000216187.6_Missense_Mutation_p.T541N	p.T541N	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN			7	1715	-			541					B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	ENST00000397224.4	37	c.1622C>A	CCDS13929.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538925	0.65085	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000366463;ENST00000397223	T;T;T;T	0.49432	2.39;2.39;0.78;2.39	5.52	5.52	0.82312	.	0.047591	0.85682	D	0.000000	T	0.50888	0.1642	M	0.61703	1.905	0.80722	D	1	P	0.45902	0.868	B	0.41036	0.346	T	0.56420	-0.7982	10	0.54805	T	0.06	-30.5522	19.4887	0.95040	0.0:0.0:1.0:0.0	.	541	Q8IWF2	FXRD2_HUMAN	N	541;541;93;541	ENSP00000380401:T541N;ENSP00000216187:T541N;ENSP00000382543:T93N;ENSP00000380400:T541N	ENSP00000216187:T541N	T	-	2	0	FOXRED2	35221962	1.000000	0.71417	0.998000	0.56505	0.773000	0.43773	8.714000	0.91412	2.607000	0.88179	0.650000	0.86243	ACC		0.542	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2	NM_024955		83	146	1	0	9.47799e-51	1	1.19256e-50	83	146				
VPS33A	65082	broad.mit.edu	37	12	122723269	122723269	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr12:122723269G>T	ENST00000267199.4	-	10	1279	c.1167C>A	c.(1165-1167)gtC>gtA	p.V389V	RP11-512M8.5_ENST00000535844.1_Silent_p.V350V	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	389					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TGTAATTGTTGACCTGGAAAT	0.383																																						ENST00000267199.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28						c.(1165-1167)gtC>gtA		vacuolar protein sorting 33 homolog A (S. cerevisiae)							139.0	124.0	129.0					12																	122723269		2203	4300	6503	SO:0001819	synonymous_variant	65082				lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr12:122723269G>T	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.1167C>A	12.37:g.122723269G>T						RP11-512M8.5_ENST00000535844.1_Silent_p.V350V	p.V389V	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)	10	1279	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		389					Q547V4|Q9H5Q0	Silent	SNP	ENST00000267199.4	37	c.1167C>A	CCDS9231.1																																																																																				0.383	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2			9	145	1	0	1.58986e-06	1	1.75038e-06	9	145				
MTDH	92140	broad.mit.edu	37	8	98731381	98731381	+	Silent	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr8:98731381T>C	ENST00000336273.3	+	10	1813	c.1485T>C	c.(1483-1485)acT>acC	p.T495T	MTDH_ENST00000519934.1_Silent_p.T439T	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	495					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			CCATAAGCACTAGTGATCCAG	0.413																																						ENST00000336273.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1483-1485)acT>acC		metadherin							84.0	89.0	87.0					8																	98731381		2203	4300	6503	SO:0001819	synonymous_variant	92140				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	g.chr8:98731381T>C	AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1485T>C	8.37:g.98731381T>C						MTDH_ENST00000519934.1_Silent_p.T439T	p.T495T	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.178)		10	1813	+	Breast(36;2.56e-06)		495					Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Silent	SNP	ENST00000336273.3	37	c.1485T>C	CCDS6274.1																																																																																				0.413	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2			22	30	0	0	0	1	0	22	30				
KIF7	374654	broad.mit.edu	37	15	90185512	90185512	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:90185512C>A	ENST00000394412.3	-	11	2392	c.2316G>T	c.(2314-2316)aaG>aaT	p.K772N		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	772	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCTGGAGCTCCTTGCCCTCGA	0.692																																						ENST00000394412.3																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25						c.(2314-2316)aaG>aaT		kinesin family member 7							20.0	20.0	20.0					15																	90185512		2198	4298	6496	SO:0001583	missense	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90185512C>A	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.2316G>T	15.37:g.90185512C>A	ENSP00000377934:p.Lys772Asn						p.K772N	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		11	2392	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		772					Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	c.2316G>T	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	c	11.90	1.775859	0.31411	.	.	ENSG00000166813	ENST00000394412	T	0.54675	0.56	4.87	0.834	0.18880	.	0.348482	0.33753	N	0.004589	T	0.44286	0.1286	L	0.58810	1.83	0.23271	N	0.998003	B;B	0.27559	0.119;0.181	B;B	0.31547	0.132;0.102	T	0.31447	-0.9943	10	0.23302	T	0.38	.	8.5016	0.33161	0.0:0.4976:0.0:0.5024	.	258;772	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	N	772	ENSP00000377934:K772N	ENSP00000377934:K772N	K	-	3	2	KIF7	87986516	0.674000	0.27549	0.516000	0.27786	0.690000	0.40134	0.195000	0.17155	0.117000	0.18138	0.306000	0.20318	AAG		0.692	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		8	12	1	0	7.93312e-07	0.457914	8.86643e-07	8	12				
PKHD1	5314	broad.mit.edu	37	6	51637542	51637542	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:51637542G>A	ENST00000371117.3	-	55	8875	c.8600C>T	c.(8599-8601)tCc>tTc	p.S2867F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S2867F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2867	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGTGTCCAGGAGTTCTTAGG	0.398																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(8599-8601)tCc>tTc		polycystic kidney and hepatic disease 1 (autosomal recessive)							134.0	135.0	135.0					6																	51637542		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51637542G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8600C>T	6.37:g.51637542G>A	ENSP00000360158:p.Ser2867Phe					PKHD1_ENST00000340994.4_Missense_Mutation_p.S2867F	p.S2867F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			55	8875	-	Lung NSC(77;0.0605)		2867			G8 2.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.8600C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218140	0.58560	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.90900	-2.75;-2.75	5.79	4.92	0.64577	G8 domain (2);	0.235877	0.37857	N	0.001907	D	0.89972	0.6870	M	0.63428	1.95	0.33873	D	0.63519	D;D;D	0.71674	0.998;0.996;0.994	D;P;D	0.70487	0.969;0.759;0.925	D	0.87225	0.2256	10	0.12103	T	0.63	.	12.1178	0.53875	0.0791:0.0:0.9209:0.0	.	2867;2867;2867	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	F	2867	ENSP00000360158:S2867F;ENSP00000341097:S2867F	ENSP00000341097:S2867F	S	-	2	0	PKHD1	51745501	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	4.463000	0.60128	1.445000	0.47624	0.591000	0.81541	TCC		0.398	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		88	135	0	0	0	0.870114	0	88	135				
SSH2	85464	broad.mit.edu	37	17	28120929	28120929	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:28120929G>A	ENST00000269033.3	-	2	241	c.90C>T	c.(88-90)tgC>tgT	p.C30C	SSH2_ENST00000540801.1_Silent_p.C57C	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	30					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCTGTGACCGGCATTCTTCCT	0.328																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(88-90)tgC>tgT		slingshot protein phosphatase 2							71.0	71.0	71.0					17																	28120929		2203	4300	6503	SO:0001819	synonymous_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:28120929G>A	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.90C>T	17.37:g.28120929G>A						SSH2_ENST00000540801.1_Silent_p.C57C	p.C30C	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			2	241	-			30					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Silent	SNP	ENST00000269033.3	37	c.90C>T	CCDS11253.1																																																																																				0.328	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		4	156	0	0	0	0.150653	0	4	156				
LDHAL6B	92483	broad.mit.edu	37	15	59499808	59499808	+	Silent	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:59499808T>A	ENST00000307144.4	+	1	767	c.669T>A	c.(667-669)atT>atA	p.I223I	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	223					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						GTTTCTTGATTGGACAAAAGC	0.438																																						ENST00000307144.4																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						c.(667-669)atT>atA		lactate dehydrogenase A-like 6B	NADH(DB00157)						77.0	78.0	78.0					15																	59499808		2191	4290	6481	SO:0001819	synonymous_variant	92483				glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	g.chr15:59499808T>A	AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"""lactate dehydrogenase A-like 6"""	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.669T>A	15.37:g.59499808T>A						MYO1E_ENST00000288235.4_Intron	p.I223I	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN			1	767	+			223					Q6DUY4|Q96LI2	Silent	SNP	ENST00000307144.4	37	c.669T>A	CCDS10171.1																																																																																				0.438	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195		56	113	0	0	0	0.870114	0	56	113				
ATP8A1	10396	broad.mit.edu	37	4	42618092	42618092	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr4:42618092G>C	ENST00000381668.5	-	5	598	c.367C>G	c.(367-369)Cga>Gga	p.R123G	ATP8A1_ENST00000264449.10_Missense_Mutation_p.R123G	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	123					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GCTTTATGTCGTTTCTAAAGT	0.299																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(367-369)Cga>Gga		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						171.0	163.0	166.0					4																	42618092		2200	4300	6500	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42618092G>C	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.367C>G	4.37:g.42618092G>C	ENSP00000371084:p.Arg123Gly					ATP8A1_ENST00000264449.10_Missense_Mutation_p.R123G	p.R123G	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			5	598	-			123					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.367C>G	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052996	0.55218	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	D;D	0.85629	-2.01;-2.01	5.96	5.96	0.96718	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.96137	0.8741	H	0.99800	4.79	0.80722	D	1	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.97110	0.982;1.0;1.0	D	0.97105	0.9800	10	0.72032	D	0.01	.	13.3173	0.60415	0.0:0.0:0.7407:0.2593	.	123;123;123	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	G	123	ENSP00000371084:R123G;ENSP00000264449:R123G	ENSP00000264449:R123G	R	-	1	2	ATP8A1	42312849	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	4.497000	0.60367	2.831000	0.97527	0.650000	0.86243	CGA		0.299	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		39	84	0	0	0	0.840704	0	39	84				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			101927209							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			6	104	0	0	0	0.217242	0	6	104				
ZNF789	285989	broad.mit.edu	37	7	99084134	99084134	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr7:99084134C>A	ENST00000331410.5	+	5	571	c.301C>A	c.(301-303)Cca>Aca	p.P101T	ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAAGCTAACTCCAAAACAGAA	0.343																																						ENST00000331410.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11						c.(301-303)Cca>Aca		zinc finger protein 789							40.0	43.0	42.0					7																	99084134		2203	4300	6503	SO:0001583	missense	285989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:99084134C>A	AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.301C>A	7.37:g.99084134C>A	ENSP00000331927:p.Pro101Thr					ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000448667.1_3'UTR	p.P101T	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN			5	571	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		101					A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	ENST00000331410.5	37	c.301C>A	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	C	0.726	-0.781622	0.02929	.	.	ENSG00000198556	ENST00000331410	T	0.05081	3.5	2.8	-1.69	0.08186	.	.	.	.	.	T	0.03959	0.0111	L	0.33485	1.01	0.09310	N	1	B	0.30068	0.267	B	0.25291	0.059	T	0.42361	-0.9456	9	0.29301	T	0.29	.	3.4587	0.07524	0.0:0.3621:0.2053:0.4326	.	101	Q5FWF6	ZN789_HUMAN	T	101	ENSP00000331927:P101T	ENSP00000331927:P101T	P	+	1	0	ZNF789	98922070	0.001000	0.12720	0.004000	0.12327	0.041000	0.13682	0.202000	0.17295	-0.414000	0.07495	-0.827000	0.03088	CCA		0.343	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		40	51	1	0	4.92203e-23	0.819951	5.96927e-23	40	51				
SH2D6	284948	broad.mit.edu	37	2	85662808	85662808	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:85662808G>A	ENST00000340326.2	+	3	433	c.272G>A	c.(271-273)cGc>cAc	p.R91H	SH2D6_ENST00000389938.2_Missense_Mutation_p.R59H|Y_RNA_ENST00000384478.1_RNA|SH2D6_ENST00000481426.2_3'UTR	NM_198482.1	NP_940884.1	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	91	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									central_nervous_system(1)|lung(2)	3						TATACCGTGCGCCCCAGCTCA	0.652																																						ENST00000389938.2																			0				central_nervous_system(1)|lung(2)	3						c.(175-177)cGc>cAc		SH2 domain containing 6							39.0	43.0	42.0					2																	85662808		2203	4300	6503	SO:0001583	missense	284948							g.chr2:85662808G>A	AF450483	CCDS1976.1	2p11.2	2013-02-14			ENSG00000152292	ENSG00000152292		"""SH2 domain containing"""	30439	protein-coding gene	gene with protein product						12477932	Standard	NM_198482		Approved	FLJ35993	uc002spq.3	Q7Z4S9	OTTHUMG00000130176	ENST00000340326.2:c.272G>A	2.37:g.85662808G>A	ENSP00000341867:p.Arg91His					SH2D6_ENST00000481426.2_3'UTR|SH2D6_ENST00000340326.2_Missense_Mutation_p.R91H	p.R59H			Q7Z4S9	SH2D6_HUMAN			19	1490	+			91					A6ND14|Q6R306	Missense_Mutation	SNP	ENST00000340326.2	37	c.176G>A	CCDS1976.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686379	0.88639	.	.	ENSG00000152292	ENST00000389938;ENST00000340326	D;D	0.99292	-5.7;-5.7	4.87	4.87	0.63330	SH2 motif (4);	0.000000	0.64402	D	0.000006	D	0.99560	0.9842	H	0.95437	3.67	0.50467	D	0.999874	D	0.89917	1.0	D	0.91635	0.999	D	0.97981	1.0349	10	0.87932	D	0	-34.5067	13.5201	0.61563	0.0:0.0:1.0:0.0	.	91	Q7Z4S9	SH2D6_HUMAN	H	59;91	ENSP00000374588:R59H;ENSP00000341867:R91H	ENSP00000341867:R91H	R	+	2	0	SH2D6	85516319	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	6.340000	0.72973	2.256000	0.74724	0.462000	0.41574	CGC		0.652	SH2D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252493.2	NM_198482		19	38	0	0	0	0.557998	0	19	38				
LARS2	23395	broad.mit.edu	37	3	45537772	45537772	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:45537772A>G	ENST00000415258.1	+	13	1670	c.1529A>G	c.(1528-1530)aAg>aGg	p.K510R	LARS2_ENST00000265537.3_Missense_Mutation_p.K510R|LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000414984.1_Missense_Mutation_p.K467R			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	510					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CTTAGGTGCAAGGGAGCAGCC	0.363																																						ENST00000415258.1																			0				endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1528-1530)aAg>aGg		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)						159.0	154.0	156.0					3																	45537772		2203	4300	6503	SO:0001583	missense	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45537772A>G	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.1529A>G	3.37:g.45537772A>G	ENSP00000408576:p.Lys510Arg					LARS2_ENST00000265537.3_Missense_Mutation_p.K510R|LARS2_ENST00000414984.1_Missense_Mutation_p.K467R|LARS2-AS1_ENST00000442534.2_RNA	p.K510R			Q15031	SYLM_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	13	1670	+			510						Missense_Mutation	SNP	ENST00000415258.1	37	c.1529A>G	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.178018	0.78564	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	T;T;T	0.76448	-1.02;-1.02;-1.02	5.49	5.49	0.81192	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.157299	0.56097	D	0.000036	T	0.80037	0.4550	M	0.72576	2.205	0.41153	D	0.98604	P;B	0.37061	0.58;0.437	B;B	0.43445	0.42;0.254	T	0.82440	-0.0456	10	0.87932	D	0	-18.749	11.5725	0.50843	0.8509:0.1491:0.0:0.0	.	467;510	E9PHM2;Q15031	.;SYLM_HUMAN	R	510;510;467	ENSP00000265537:K510R;ENSP00000408576:K510R;ENSP00000412893:K467R	ENSP00000265537:K510R	K	+	2	0	LARS2	45512776	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.256000	0.51492	2.085000	0.62840	0.528000	0.53228	AAG		0.363	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		103	170	0	0	0	0.870114	0	103	170				
ERICH6	131831	broad.mit.edu	37	3	150404112	150404112	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:150404112G>A	ENST00000295910.6	-	4	635	c.583C>T	c.(583-585)Cct>Tct	p.P195S	FAM194A_ENST00000491361.1_Missense_Mutation_p.P49S	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGACATTCAGGTTCAGCTTTC	0.388																																						ENST00000295910.6																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(583-585)Cct>Tct		family with sequence similarity 194, member A							143.0	140.0	141.0					3																	150404112		2203	4300	6503	SO:0001583	missense	131831							g.chr3:150404112G>A																												ENST00000295910.6:c.583C>T	3.37:g.150404112G>A	ENSP00000295910:p.Pro195Ser					FAM194A_ENST00000491361.1_Missense_Mutation_p.P49S	p.P195S	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN			4	635	-			195						Missense_Mutation	SNP	ENST00000295910.6	37	c.583C>T	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	G	7.131	0.579930	0.13686	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.14144	2.71;2.53	3.41	0.518	0.17030	.	0.828030	0.10150	N	0.709670	T	0.08758	0.0217	L	0.40543	1.245	0.09310	N	1	B	0.22909	0.077	B	0.23275	0.045	T	0.43893	-0.9363	10	0.09084	T	0.74	-0.5384	3.7466	0.08551	0.2368:0.204:0.5591:0.0	.	195	Q7L0X2	F194A_HUMAN	S	195;49;153	ENSP00000295910:P195S;ENSP00000419366:P49S	ENSP00000295910:P195S	P	-	1	0	FAM194A	151886802	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.024000	0.12435	0.090000	0.17273	0.491000	0.48974	CCT		0.388	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			37	157	0	0	0	0.859065	0	37	157				
TENM4	26011	broad.mit.edu	37	11	78369474	78369474	+	Missense_Mutation	SNP	C	C	T	rs184305763		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:78369474C>T	ENST00000278550.7	-	34	8401	c.7939G>A	c.(7939-7941)Gtc>Atc	p.V2647I		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2647					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.V2647I(2)									GACACAGTGACGTTGACCCCA	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21367	0.0		0.0	False		,,,				2504	0.0					ENST00000278550.7																			2	Substitution - Missense(2)	p.V2647I(2)	breast(2)								c.(7939-7941)Gtc>Atc		teneurin transmembrane protein 4							73.0	76.0	75.0					11																	78369474		2112	4241	6353	SO:0001583	missense	26011							g.chr11:78369474C>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7939G>A	11.37:g.78369474C>T	ENSP00000278550:p.Val2647Ile						p.V2647I	NM_001098816.2	NP_001092286.2					34	8401	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.7939G>A	CCDS44688.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	21.8	4.208994	0.79240	.	.	ENSG00000149256	ENST00000278550	D	0.90732	-2.72	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.93822	0.8024	L	0.51914	1.62	0.58432	D	0.999999	D	0.76494	0.999	D	0.71184	0.972	D	0.92205	0.5771	9	.	.	.	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	2647	Q6N022	TEN4_HUMAN	I	2647	ENSP00000278550:V2647I	.	V	-	1	0	ODZ4	78047122	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	5.891000	0.69782	2.941000	0.99782	0.655000	0.94253	GTC		0.562	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			6	84	0	0	0	0.278610	0	6	84				
C8A	731	broad.mit.edu	37	1	57351601	57351601	+	Splice_Site	SNP	A	A	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:57351601A>C	ENST00000361249.3	+	7	953	c.857A>C	c.(856-858)aAa>aCa	p.K286T		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	286	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGCTGGCAGAAATTCATTTTC	0.393																																						ENST00000361249.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.e7-1		complement component 8, alpha polypeptide							54.0	54.0	54.0					1																	57351601		2203	4300	6503	SO:0001630	splice_region_variant	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57351601A>C	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.856-1A>C	1.37:g.57351601A>C							p.K286_splice	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			7	953	+			286			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Splice_Site	SNP	ENST00000361249.3	37	c.855_splice	CCDS606.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.403810	0.25291	.	.	ENSG00000157131	ENST00000361249	D	0.85411	-1.98	5.95	2.26	0.28386	Membrane attack complex component/perforin (MACPF) domain (2);	0.487586	0.26887	N	0.021993	D	0.83769	0.5326	M	0.77103	2.36	0.22050	N	0.999399	P	0.39424	0.673	B	0.39706	0.307	T	0.74028	-0.3796	10	0.39692	T	0.17	-9.6949	10.4056	0.44254	0.8179:0.0:0.1821:0.0	.	286	P07357	CO8A_HUMAN	T	286	ENSP00000354458:K286T	ENSP00000354458:K286T	K	+	2	0	C8A	57124189	0.741000	0.28217	0.992000	0.48379	0.095000	0.18619	1.988000	0.40697	0.483000	0.27608	0.460000	0.39030	AAA		0.393	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562	Missense_Mutation	6	62	0	0	0	0.248553	0	6	62				
ERCC5	2073	broad.mit.edu	37	13	103513996	103513996	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr13:103513996G>T	ENST00000355739.4	+	7	2235	c.812G>T	c.(811-813)gGc>gTc	p.G271V	BIVM-ERCC5_ENST00000602836.1_Silent_p.G696G	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	271					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GATGAAGGGGGCTTTCTGAAG	0.388			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000355739.4			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""Mis, N, F"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51						c.(811-813)gGc>gTc	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 5							123.0	126.0	125.0					13																	103513996		2203	4300	6503	SO:0001583	missense	2073	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV				g.chr13:103513996G>T	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.812G>T	13.37:g.103513996G>T	ENSP00000347978:p.Gly271Val					BIVM-ERCC5_ENST00000602836.1_Silent_p.G696G	p.G271V	NM_000123.3	NP_000114.2					7	2235	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)							A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.812G>T	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785173	0.90282	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955	T	0.20332	2.08	5.59	5.59	0.84812	.	0.170125	0.52532	D	0.000069	T	0.48519	0.1504	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.91635	0.944;0.999;0.999	T	0.33548	-0.9864	10	0.42905	T	0.14	-17.8275	19.6012	0.95563	0.0:0.0:1.0:0.0	.	271;271;696	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	V	696;271;103	ENSP00000347978:G271V	ENSP00000347978:G271V	G	+	2	0	ERCC5	102311997	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.234000	0.65343	2.625000	0.88918	0.557000	0.71058	GGC		0.388	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			5	181	1	0	0.000602214	0.184627	0.000629839	5	181				
SLC9A8	23315	broad.mit.edu	37	20	48479596	48479596	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr20:48479596T>G	ENST00000361573.2	+	9	886	c.844T>G	c.(844-846)Tct>Gct	p.S282A	SLC9A8_ENST00000541138.1_Intron|SLC9A8_ENST00000417961.1_Missense_Mutation_p.S298A|SLC9A8_ENST00000539601.1_Missense_Mutation_p.S63A			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	282					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TGGCTTAATTTCTGCATTAAT	0.418																																						ENST00000417961.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(892-894)Tct>Gct		solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8							76.0	73.0	74.0					20																	48479596		2203	4300	6503	SO:0001583	missense	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48479596T>G	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.844T>G	20.37:g.48479596T>G	ENSP00000354966:p.Ser282Ala					SLC9A8_ENST00000361573.2_Missense_Mutation_p.S282A|SLC9A8_ENST00000541138.1_Intron|SLC9A8_ENST00000539601.1_Missense_Mutation_p.S63A	p.S298A	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		9	1102	+			282					B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	ENST00000361573.2	37	c.892T>G	CCDS13421.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.378504	0.61735	.	.	ENSG00000197818	ENST00000417961;ENST00000361573;ENST00000539601	T;T;T	0.14516	2.5;2.5;2.5	5.39	5.39	0.77823	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.14874	0.0359	L	0.39326	1.205	0.80722	D	1	B	0.19073	0.033	B	0.27262	0.078	T	0.04976	-1.0914	10	0.30854	T	0.27	.	15.4123	0.74937	0.0:0.0:0.0:1.0	.	282	Q9Y2E8	SL9A8_HUMAN	A	298;282;63	ENSP00000416418:S298A;ENSP00000354966:S282A;ENSP00000441716:S63A	ENSP00000354966:S282A	S	+	1	0	SLC9A8	47913003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.538000	0.82048	2.023000	0.59567	0.460000	0.39030	TCT		0.418	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		52	150	0	0	0	0.870114	0	52	150				
TNNT2	7139	broad.mit.edu	37	1	201335996	201335996	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:201335996C>A	ENST00000509001.1	-	7	459	c.173G>T	c.(172-174)gGc>gTc	p.G58V	TNNT2_ENST00000367315.2_Missense_Mutation_p.G58V|TNNT2_ENST00000367322.1_Missense_Mutation_p.G58V|TNNT2_ENST00000360372.4_Missense_Mutation_p.G53V|TNNT2_ENST00000460780.1_5'Flank|TNNT2_ENST00000458432.2_Missense_Mutation_p.G70V|TNNT2_ENST00000367320.2_Missense_Mutation_p.G67V|TNNT2_ENST00000421663.2_Missense_Mutation_p.G60V|TNNT2_ENST00000367318.5_Missense_Mutation_p.G58V|TNNT2_ENST00000367317.4_Missense_Mutation_p.G58V|TNNT2_ENST00000236918.7_Missense_Mutation_p.G63V	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	68					ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						CTCCATTGGGCCATCTGGAGG	0.597																																						ENST00000509001.1																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						c.(172-174)gGc>gTc		troponin T type 2 (cardiac)							89.0	85.0	86.0					1																	201335996		2203	4300	6503	SO:0001583	missense	7139				ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr1:201335996C>A	X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"""troponin T2, cardiac"", ""cardiomyopathy, hypertrophic 2"", ""cardiomyopathy, dilated 1D (autosomal dominant)"""	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.173G>T	1.37:g.201335996C>A	ENSP00000422031:p.Gly58Val					TNNT2_ENST00000360372.4_Missense_Mutation_p.G53V|TNNT2_ENST00000421663.2_Missense_Mutation_p.G60V|TNNT2_ENST00000367315.2_Missense_Mutation_p.G58V|TNNT2_ENST00000367317.4_Missense_Mutation_p.G58V|TNNT2_ENST00000367320.2_Missense_Mutation_p.G67V|TNNT2_ENST00000367318.5_Missense_Mutation_p.G58V|TNNT2_ENST00000367322.1_Missense_Mutation_p.G58V|TNNT2_ENST00000458432.2_Missense_Mutation_p.G70V|TNNT2_ENST00000236918.7_Missense_Mutation_p.G63V	p.G58V	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN			7	459	-			68					A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	Missense_Mutation	SNP	ENST00000509001.1	37	c.173G>T	CCDS30969.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.448174	0.63178	.	.	ENSG00000118194	ENST00000367322;ENST00000367318;ENST00000458432;ENST00000421663;ENST00000236918;ENST00000367317;ENST00000367315;ENST00000360372;ENST00000357848;ENST00000367320;ENST00000509001;ENST00000438742;ENST00000455702;ENST00000422165;ENST00000412633	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99445	-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91	4.67	3.74	0.42951	.	0.488362	0.20948	N	0.082811	D	0.98030	0.9351	N	0.24115	0.695	0.80722	D	1	P;D;P;P;D	0.58268	0.906;0.982;0.94;0.94;0.964	B;P;B;B;P	0.54140	0.346;0.743;0.331;0.331;0.531	D	0.95982	0.8978	10	0.31617	T	0.26	-22.1946	8.0539	0.30593	0.0:0.8891:0.0:0.1109	.	53;67;68;58;68	E7EPW4;P45379-3;P45379;Q9BUF6;P45379-10	.;.;TNNT2_HUMAN;.;.	V	58;58;70;60;63;58;58;53;54;67;58;53;68;63;57	ENSP00000356291:G58V;ENSP00000356287:G58V;ENSP00000387874:G70V;ENSP00000404134:G60V;ENSP00000236918:G63V;ENSP00000356286:G58V;ENSP00000356284:G58V;ENSP00000353535:G53V;ENSP00000356289:G67V;ENSP00000422031:G58V;ENSP00000414036:G53V;ENSP00000402238:G68V;ENSP00000395163:G63V;ENSP00000408731:G57V	ENSP00000236918:G63V	G	-	2	0	TNNT2	199602619	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	1.326000	0.33735	2.296000	0.77279	0.561000	0.74099	GGC		0.597	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360358.1	NM_000364		57	99	1	0	9.72345e-25	0.870114	1.19191e-24	57	99				
TNFRSF11B	4982	broad.mit.edu	37	8	119938760	119938760	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr8:119938760G>C	ENST00000297350.4	-	4	1168	c.790C>G	c.(790-792)Caa>Gaa	p.Q264E		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	264	Death 1.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			ACTATATCTTGGTCTTTGTTT	0.358																																						ENST00000297350.4																			0				breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25						c.(790-792)Caa>Gaa		tumor necrosis factor receptor superfamily, member 11b							211.0	202.0	205.0					8																	119938760		2203	4299	6502	SO:0001583	missense	4982				apoptosis|skeletal system development		cytokine activity|receptor activity	g.chr8:119938760G>C	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.790C>G	8.37:g.119938760G>C	ENSP00000297350:p.Gln264Glu						p.Q264E	NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	STAD - Stomach adenocarcinoma(47;0.00193)		4	1168	-	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		264			Death 1.		B2R9A8|O60236|Q53FX6|Q9UHP4	Missense_Mutation	SNP	ENST00000297350.4	37	c.790C>G	CCDS6326.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.210254	0.58343	.	.	ENSG00000164761	ENST00000297350	D	0.93307	-3.2	5.73	5.73	0.89815	DEATH-like (2);	0.145183	0.47093	D	0.000244	D	0.89904	0.6850	L	0.61218	1.895	0.39016	D	0.959648	P	0.39782	0.688	B	0.27262	0.078	D	0.89910	0.4051	9	.	.	.	-14.0254	14.7188	0.69289	0.0:0.0:0.8553:0.1447	.	264	O00300	TR11B_HUMAN	E	264	ENSP00000297350:Q264E	.	Q	-	1	0	TNFRSF11B	120007941	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	6.310000	0.72830	2.721000	0.93114	0.655000	0.94253	CAA		0.358	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			119	254	0	0	0	0.870114	0	119	254				
AAR2	25980	broad.mit.edu	37	20	34832710	34832710	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr20:34832710G>T	ENST00000373932.3	+	3	1195	c.849G>T	c.(847-849)cgG>cgT	p.R283R	AAR2_ENST00000320849.4_Silent_p.R283R|AAR2_ENST00000397286.3_Silent_p.R283R	NM_015511.3	NP_056326.2	Q9Y312	AAR2_HUMAN	AAR2 splicing factor homolog (S. cerevisiae)	283																	TCCTGTGCCGGTCAGAAGCAG	0.527																																						ENST00000373932.3																			0											c.(847-849)cgG>cgT		AAR2 splicing factor homolog (S. cerevisiae)							213.0	172.0	186.0					20																	34832710		2203	4300	6503	SO:0001819	synonymous_variant	25980							g.chr20:34832710G>T		CCDS13273.1	20q11.23	2012-07-20	2012-07-20	2012-07-20	ENSG00000131043	ENSG00000131043			15886	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 4"""	C20orf4			Standard	NM_015511		Approved	bA234K24.2	uc002xfc.3	Q9Y312	OTTHUMG00000032380	ENST00000373932.3:c.849G>T	20.37:g.34832710G>T						AAR2_ENST00000320849.4_Silent_p.R283R|AAR2_ENST00000397286.3_Silent_p.R283R	p.R283R	NM_015511.3	NP_056326.2					3	1195	+								E1P5S7|Q9H4F9|Q9P1P3|Q9UFK9	Silent	SNP	ENST00000373932.3	37	c.849G>T	CCDS13273.1																																																																																				0.527	AAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079001.2	NM_015511		9	127	1	0	0.00316338	0.479597	0.00324888	9	127				
NCOA5	57727	broad.mit.edu	37	20	44693835	44693835	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr20:44693835C>A	ENST00000290231.6	-	6	826	c.662G>T	c.(661-663)cGa>cTa	p.R221L		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	221					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GCCCAGGTCTCGCACCTTCCG	0.483																																						ENST00000290231.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(661-663)cGa>cTa		nuclear receptor coactivator 5							202.0	168.0	180.0					20																	44693835		2203	4300	6503	SO:0001583	missense	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44693835C>A		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.662G>T	20.37:g.44693835C>A	ENSP00000290231:p.Arg221Leu						p.R221L	NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN			6	826	-		Myeloproliferative disorder(115;0.0122)	221					B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	ENST00000290231.6	37	c.662G>T	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.850425	0.91277	.	.	ENSG00000124160	ENST00000290231	T	0.54675	0.56	5.38	5.38	0.77491	Anticodon-binding (2);	0.056430	0.64402	D	0.000001	T	0.73218	0.3559	M	0.77103	2.36	0.80722	D	1	D	0.59357	0.985	D	0.65573	0.936	T	0.75918	-0.3148	10	0.87932	D	0	-11.4519	18.3063	0.90182	0.0:1.0:0.0:0.0	.	221	Q9HCD5	NCOA5_HUMAN	L	221	ENSP00000290231:R221L	ENSP00000290231:R221L	R	-	2	0	NCOA5	44127242	1.000000	0.71417	0.989000	0.46669	0.985000	0.73830	5.932000	0.70121	2.804000	0.96469	0.462000	0.41574	CGA		0.483	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		5	363	1	0	0.00116845	0.217242	0.00121093	5	363				
UTP11L	51118	broad.mit.edu	37	1	38484984	38484984	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:38484984T>A	ENST00000373014.4	+	6	557	c.496T>A	c.(496-498)Ttt>Att	p.F166I	UTP11L_ENST00000537711.1_Intron|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)	166					nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleolus (GO:0005730)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGACAGAGTCTTTAATAGGCC	0.423																																						ENST00000373014.4																			0				NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(496-498)Ttt>Att		UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)							107.0	112.0	110.0					1																	38484984		2203	4300	6503	SO:0001583	missense	51118				induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding	g.chr1:38484984T>A	AF151852	CCDS429.1	1p34.3	2014-03-06	2014-03-06		ENSG00000183520	ENSG00000183520			24329	protein-coding gene	gene with protein product		609440				11860508, 10810093	Standard	NM_016037		Approved	CGI-94	uc001ccn.4	Q9Y3A2	OTTHUMG00000004435	ENST00000373014.4:c.496T>A	1.37:g.38484984T>A	ENSP00000362105:p.Phe166Ile					UTP11L_ENST00000537711.1_Intron|UTP11L_ENST00000488453.1_3'UTR	p.F166I	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN			6	557	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	166					A8K785|B4DJC6|D3DPT7|Q5VT93|Q9BS98|Q9NS31	Missense_Mutation	SNP	ENST00000373014.4	37	c.496T>A	CCDS429.1	.	.	.	.	.	.	.	.	.	.	T	18.31	3.596613	0.66332	.	.	ENSG00000183520	ENST00000373014	.	.	.	5.8	5.8	0.92144	.	0.155260	0.64402	D	0.000013	T	0.57814	0.2079	L	0.49455	1.56	0.80722	D	1	B	0.27316	0.175	B	0.28465	0.09	T	0.53767	-0.8392	9	0.22706	T	0.39	-19.0294	16.1435	0.81544	0.0:0.0:0.0:1.0	.	166	Q9Y3A2	UTP11_HUMAN	I	166	.	ENSP00000362105:F166I	F	+	1	0	UTP11L	38257571	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.887000	0.75616	2.212000	0.71576	0.528000	0.53228	TTT		0.423	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012962.1	NM_016037		12	153	0	0	0	0.387290	0	12	153				
CR1	1378	broad.mit.edu	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	C	T	rs55749440		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:207787753C>T	ENST00000367049.4	+	40	6580	c.6580C>T	c.(6580-6582)Cga>Tga	p.R2194*	CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1744					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTCCGATTAAAAGG	0.423																																						ENST00000367049.4																			19	Substitution - Nonsense(19)	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)	lung(6)|endometrium(6)|prostate(3)|kidney(2)|central_nervous_system(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(6580-6582)Cga>Tga		complement component (3b/4b) receptor 1 (Knops blood group)							103.0	94.0	97.0					1																	207787753		1868	4107	5975	SO:0001587	stop_gained	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207787753C>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6580C>T	1.37:g.207787753C>T	ENSP00000356016:p.Arg2194*					CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*	p.R2194*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			40	6580	+			1744					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Nonsense_Mutation	SNP	ENST00000367049.4	37	c.6580C>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	44	11.182593	0.99528	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.	.	.	4.29	2.39	0.29439	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5152	0.27596	0.0:0.7891:0.0:0.2109	rs55749440	.	.	.	X	1744;1744;1744;1744;2194	.	ENSP00000356016:R2194X	R	+	1	2	CR1	205854376	0.129000	0.22400	0.370000	0.25965	0.352000	0.29268	0.213000	0.17521	0.518000	0.28383	0.436000	0.28706	CGA		0.423	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		3	69	0	0	0	0.115264	0	3	69				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																729171							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			5	103	0	0	0	0.217242	0	5	103				
KRTAP10-7	386675	broad.mit.edu	37	21	46021150	46021150	+	Missense_Mutation	SNP	C	C	T	rs368247742	byFrequency	TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr21:46021150C>T	ENST00000380102.2	+	1	654	c.629C>T	c.(628-630)aCg>aTg	p.T210M	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	210	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						AGCTCCTGCACGCCCTCGTGC	0.667													C|||	2	0.000399361	0.0	0.0014	5008	,	,		22511	0.0		0.0	False		,,,				2504	0.001					ENST00000380102.2																			0				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(628-630)aCg>aTg		keratin associated protein 10-7		C	MET/THR,	0,4402		0,0,2201	49.0	49.0	49.0		629,	0.9	0.0	21		49	1,8557		0,1,4278	no	missense,intron	TSPEAR,KRTAP10-7	NM_198689.2,NM_144991.2	81,	0,1,6479	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging,	210/376,	46021150	1,12959	2201	4279	6480	SO:0001583	missense	386675					keratin filament		g.chr21:46021150C>T	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.629C>T	21.37:g.46021150C>T	ENSP00000369445:p.Thr210Met					TSPEAR_ENST00000323084.4_Intron	p.T210M	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN			1	654	+			210			30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	ENST00000380102.2	37	c.629C>T		.	.	.	.	.	.	.	.	.	.	N	2.156	-0.393436	0.04899	0.0	1.17E-4	ENSG00000205441	ENST00000380102	T	0.01406	4.93	3.1	0.846	0.18955	.	.	.	.	.	T	0.03871	0.0109	M	0.80422	2.495	0.09310	N	1	D	0.59357	0.985	P	0.49528	0.614	T	0.34054	-0.9844	9	0.48119	T	0.1	.	7.8101	0.29226	0.388:0.612:0.0:0.0	.	205	P60409-2	.	M	210	ENSP00000369445:T210M	ENSP00000369445:T210M	T	+	2	0	KRTAP10-7	44845578	0.000000	0.05858	0.006000	0.13384	0.017000	0.09413	-0.265000	0.08644	0.373000	0.24621	0.305000	0.20034	ACG		0.667	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		5	128	0	0	0	0.278610	0	5	128				
KRT28	162605	broad.mit.edu	37	17	38955746	38955746	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:38955746C>T	ENST00000306658.7	-	1	465	c.400G>A	c.(400-402)Gat>Aat	p.D134N		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TAGTCATGATCAAGTCCACGG	0.388																																					Melanoma(19;789 869 15380 26882 39836)	ENST00000306658.7																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(400-402)Gat>Aat		keratin 28							146.0	143.0	144.0					17																	38955746		2203	4300	6503	SO:0001583	missense	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38955746C>T	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.400G>A	17.37:g.38955746C>T	ENSP00000305263:p.Asp134Asn						p.D134N	NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN			1	465	-		Breast(137;0.000301)	134			Linker 1.|Rod.			Missense_Mutation	SNP	ENST00000306658.7	37	c.400G>A	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777088	0.49786	.	.	ENSG00000173908	ENST00000306658	D	0.83992	-1.79	5.19	5.19	0.71726	Filament (1);	0.094778	0.45606	D	0.000349	T	0.74359	0.3706	L	0.34521	1.04	0.38658	D	0.952009	B	0.17038	0.02	B	0.21151	0.033	T	0.72272	-0.4342	10	0.51188	T	0.08	.	10.0974	0.42484	0.0:0.9077:0.0:0.0923	.	134	Q7Z3Y7	K1C28_HUMAN	N	134	ENSP00000305263:D134N	ENSP00000305263:D134N	D	-	1	0	KRT28	36209272	0.002000	0.14202	0.993000	0.49108	0.856000	0.48823	0.956000	0.29202	2.596000	0.87737	0.655000	0.94253	GAT		0.388	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		49	445	0	0	0	0.870114	0	49	445				
ARHGAP32	9743	broad.mit.edu	37	11	128840160	128840160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:128840160G>A	ENST00000310343.9	-	22	4905	c.4906C>T	c.(4906-4908)Cag>Tag	p.Q1636*	ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.Q1287*|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.Q1287*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1636	Interaction with GAB2.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGCTGAAGCTGAGTGACATGA	0.502																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(4906-4908)Cag>Tag		Rho GTPase activating protein 32							93.0	88.0	90.0					11																	128840160		2201	4297	6498	SO:0001587	stop_gained	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128840160G>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.4906C>T	11.37:g.128840160G>A	ENSP00000310561:p.Gln1636*					ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.Q1287*|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.Q1287*	p.Q1636*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			22	4905	-			1636			Interaction with GAB2.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Nonsense_Mutation	SNP	ENST00000310343.9	37	c.4906C>T	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	41	8.637801	0.98895	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.2033	0.98269	0.0:0.0:1.0:0.0	.	.	.	.	X	1636;1287;1287	.	ENSP00000310561:Q1636X	Q	-	1	0	ARHGAP32	128345370	1.000000	0.71417	0.990000	0.47175	0.882000	0.50991	9.422000	0.97458	2.779000	0.95612	0.655000	0.94253	CAG		0.502	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		26	64	0	0	0	0.693898	0	26	64				
C3orf38	285237	broad.mit.edu	37	3	88199301	88199301	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:88199301C>T	ENST00000318887.3	+	1	409	c.99C>T	c.(97-99)gtC>gtT	p.V33V	CGGBP1_ENST00000462901.1_5'Flank|C3orf38_ENST00000486971.1_Silent_p.V33V	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	33					apoptotic process (GO:0006915)					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GCGACACTGTCACCAACCGCC	0.617																																						ENST00000318887.3																			0				breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(97-99)gtC>gtT		chromosome 3 open reading frame 38							95.0	71.0	79.0					3																	88199301		2203	4300	6503	SO:0001819	synonymous_variant	285237				apoptosis			g.chr3:88199301C>T	AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.99C>T	3.37:g.88199301C>T						C3orf38_ENST00000486971.1_Silent_p.V33V	p.V33V	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	1	409	+		Lung NSC(201;0.17)	33					B2R8X6|Q8TC85	Silent	SNP	ENST00000318887.3	37	c.99C>T	CCDS2921.2																																																																																				0.617	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824		36	46	0	0	0	0.796494	0	36	46				
PDIA6	10130	broad.mit.edu	37	2	10927548	10927548	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:10927548G>T	ENST00000272227.3	-	11	1163	c.1016C>A	c.(1015-1017)gCt>gAt	p.A339D	PDIA6_ENST00000381611.4_Missense_Mutation_p.A344D|PDIA6_ENST00000404824.2_Missense_Mutation_p.A387D|PDIA6_ENST00000540494.1_Missense_Mutation_p.A336D|PDIA6_ENST00000404371.2_Missense_Mutation_p.A391D	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	339					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		CTGGGCTCCAGCTTCTGTCCA	0.468																																					GBM(73;509 1219 34219 41343 41551)	ENST00000404371.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18						c.(1171-1173)gCt>gAt		protein disulfide isomerase family A, member 6							70.0	73.0	72.0					2																	10927548		2203	4300	6503	SO:0001583	missense	10130				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr2:10927548G>T	BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"""Protein disulfide isomerases"""	30168	protein-coding gene	gene with protein product	"""protein disulfide isomerase-related protein"""	611099	"""thioredoxin domain containing 7 (protein disulfide isomerase)"", ""protein disulfide isomerase-associated 6"""	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.1016C>A	2.37:g.10927548G>T	ENSP00000272227:p.Ala339Asp					PDIA6_ENST00000540494.1_Missense_Mutation_p.A336D|PDIA6_ENST00000404824.2_Missense_Mutation_p.A387D|PDIA6_ENST00000381611.4_Missense_Mutation_p.A344D|PDIA6_ENST00000272227.3_Missense_Mutation_p.A339D	p.A391D			Q15084	PDIA6_HUMAN		Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)	13	1509	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		339					B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Missense_Mutation	SNP	ENST00000272227.3	37	c.1172C>A	CCDS1675.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174040	0.94807	.	.	ENSG00000143870	ENST00000272227;ENST00000404371;ENST00000404824;ENST00000540494;ENST00000381611	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	5.77	5.77	0.91146	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.52289	0.1725	M	0.89287	3.02	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;0.999	D;D;D;D	0.83275	0.974;0.991;0.991;0.996	T	0.57894	-0.7732	10	0.87932	D	0	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	336;387;391;339	B7Z254;B5MCQ5;Q15084-2;Q15084	.;.;.;PDIA6_HUMAN	D	339;391;387;336;344	ENSP00000272227:A339D;ENSP00000385385:A391D;ENSP00000384459:A387D;ENSP00000438778:A336D;ENSP00000371024:A344D	ENSP00000272227:A339D	A	-	2	0	PDIA6	10844999	1.000000	0.71417	0.998000	0.56505	0.828000	0.46876	7.858000	0.86971	2.885000	0.99019	0.655000	0.94253	GCT		0.468	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	NM_005742		30	48	1	0	4.3181e-19	0.769981	5.12774e-19	30	48				
CDH9	1007	broad.mit.edu	37	5	26890658	26890658	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr5:26890658C>T	ENST00000231021.4	-	8	1441	c.1269G>A	c.(1267-1269)cgG>cgA	p.R423R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	423	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TATCAGTATGCCGATCAACAG	0.388																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1267-1269)cgG>cgA		cadherin 9, type 2 (T1-cadherin)							85.0	86.0	86.0					5																	26890658		2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26890658C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1269G>A	5.37:g.26890658C>T							p.R423R	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			8	1441	-			423			Cadherin 4.		Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.1269G>A	CCDS3893.1																																																																																				0.388	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		6	213	0	0	0	0.217242	0	6	213				
ZNF474	133923	broad.mit.edu	37	5	121488728	121488728	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr5:121488728T>G	ENST00000296600.4	+	2	1426	c.1043T>G	c.(1042-1044)aTt>aGt	p.I348S	CTC-441N14.2_ENST00000504829.1_RNA|CTC-441N14.1_ENST00000505209.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	348							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GATAAGGTAATTCATGCCACA	0.473																																						ENST00000296600.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21						c.(1042-1044)aTt>aGt		zinc finger protein 474							62.0	59.0	60.0					5																	121488728		2203	4300	6503	SO:0001583	missense	133923					intracellular	zinc ion binding	g.chr5:121488728T>G	AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"""Zinc fingers, C2H2-type"""	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.1043T>G	5.37:g.121488728T>G	ENSP00000296600:p.Ile348Ser					CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	p.I348S	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)	2	1426	+		all_cancers(142;0.229)|Prostate(80;0.0387)	348					A8K4M0|Q96M07	Missense_Mutation	SNP	ENST00000296600.4	37	c.1043T>G	CCDS4130.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.513252	0.00975	.	.	ENSG00000164185	ENST00000296600	T	0.50813	0.73	5.43	-1.19	0.09585	.	1.705140	0.04568	U	0.392818	T	0.28366	0.0701	N	0.24115	0.695	0.09310	N	0.999994	B	0.30793	0.295	B	0.30029	0.11	T	0.10314	-1.0635	10	0.07482	T	0.82	.	5.6419	0.17569	0.1381:0.413:0.0:0.4489	.	348	Q6S9Z5	ZN474_HUMAN	S	348	ENSP00000296600:I348S	ENSP00000296600:I348S	I	+	2	0	ZNF474	121516627	0.482000	0.25948	0.029000	0.17559	0.003000	0.03518	0.392000	0.20801	-0.449000	0.07117	-0.899000	0.02877	ATT		0.473	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250883.2	NM_207317		39	84	0	0	0	0.840704	0	39	84				
ZNF831	128611	broad.mit.edu	37	20	57768699	57768699	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr20:57768699G>A	ENST00000371030.2	+	1	2625	c.2625G>A	c.(2623-2625)caG>caA	p.Q875Q		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	875							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTGCCAGGCAGGTGGGCGAGC	0.652																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(2623-2625)caG>caA		zinc finger protein 831							26.0	31.0	29.0					20																	57768699		1974	4150	6124	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768699G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2625G>A	20.37:g.57768699G>A							p.Q875Q	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	2625	+	all_lung(29;0.0085)		875					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.2625G>A	CCDS42894.1																																																																																				0.652	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		6	69	0	0	0	0.248553	0	6	69				
GPR116	221395	broad.mit.edu	37	6	46823756	46823756	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:46823756T>A	ENST00000283296.7	-	20	4204	c.3916A>T	c.(3916-3918)Agt>Tgt	p.S1306C	GPR116_ENST00000362015.4_Missense_Mutation_p.S1286C|GPR116_ENST00000545669.1_Missense_Mutation_p.S735C|GPR116_ENST00000265417.7_Missense_Mutation_p.S1306C|GPR116_ENST00000456426.2_Missense_Mutation_p.S1164C	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1306					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ATTGGAGAACTCATAGAAAAC	0.413																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(3916-3918)Agt>Tgt		G protein-coupled receptor 116							54.0	49.0	50.0					6																	46823756		2203	4296	6499	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46823756T>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3916A>T	6.37:g.46823756T>A	ENSP00000283296:p.Ser1306Cys					GPR116_ENST00000265417.7_Missense_Mutation_p.S1306C|GPR116_ENST00000545669.1_Missense_Mutation_p.S735C|GPR116_ENST00000362015.4_Missense_Mutation_p.S1286C|GPR116_ENST00000456426.2_Missense_Mutation_p.S1164C	p.S1306C	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		20	4204	-			1306					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.3916A>T	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.070909	0.76301	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45	5.42	5.42	0.78866	.	0.174217	0.42294	D	0.000731	T	0.49660	0.1570	N	0.24115	0.695	0.35268	D	0.780227	P;P;D;D;D	0.89917	0.865;0.777;1.0;1.0;1.0	P;B;D;D;D	0.78314	0.593;0.199;0.991;0.989;0.991	T	0.61004	-0.7150	10	0.87932	D	0	-15.2887	14.0021	0.64439	0.0:0.0:0.0:1.0	.	735;861;1286;1164;1306	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	C	1306;1306;1286;1164;677;1306;735	ENSP00000283296:S1306C;ENSP00000354563:S1286C;ENSP00000412866:S1164C;ENSP00000265417:S1306C;ENSP00000441581:S735C	ENSP00000265417:S1306C	S	-	1	0	GPR116	46931715	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.286000	0.51724	2.182000	0.69389	0.528000	0.53228	AGT		0.413	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		5	193	0	0	0	0.184627	0	5	193				
NWD1	284434	broad.mit.edu	37	19	16910759	16910759	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr19:16910759G>A	ENST00000552788.1	+	15	3522	c.3522G>A	c.(3520-3522)gtG>gtA	p.V1174V	NWD1_ENST00000549814.1_Intron|NWD1_ENST00000523826.1_Silent_p.V968V|NWD1_ENST00000339803.6_Silent_p.V1039V|NWD1_ENST00000379808.3_Silent_p.V1174V|NWD1_ENST00000524140.2_Silent_p.V1174V|CTD-2538G9.6_ENST00000601661.1_RNA			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1174							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGGCCCCCGTGAGCCTGCTGG	0.617																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3520-3522)gtG>gtA		NACHT and WD repeat domain containing 1							42.0	44.0	44.0					19																	16910759		2203	4300	6503	SO:0001819	synonymous_variant	284434						ATP binding	g.chr19:16910759G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3522G>A	19.37:g.16910759G>A						NWD1_ENST00000379808.3_Silent_p.V1174V|NWD1_ENST00000552788.1_Silent_p.V1174V|NWD1_ENST00000549814.1_Intron|NWD1_ENST00000523826.1_Silent_p.V968V|NWD1_ENST00000339803.6_Silent_p.V1039V	p.V1174V	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			17	3940	+			1174					C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37	c.3522G>A																																																																																					0.617	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		36	61	0	0	0	0.853193	0	36	61				
SH2D2A	9047	broad.mit.edu	37	1	156779265	156779265	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:156779265C>G	ENST00000368199.3	-	7	885	c.732G>C	c.(730-732)agG>agC	p.R244S	SH2D2A_ENST00000368198.3_Missense_Mutation_p.R226S|SH2D2A_ENST00000392306.2_Missense_Mutation_p.R254S	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	244	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGGCTTGGGCCTGAGCAGCT	0.657																																						ENST00000392306.2																			0				endometrium(1)|large_intestine(2)|lung(15)	18						c.(760-762)agG>agC		SH2 domain containing 2A							46.0	53.0	51.0					1																	156779265		2203	4300	6503	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156779265C>G	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.732G>C	1.37:g.156779265C>G	ENSP00000357182:p.Arg244Ser					SH2D2A_ENST00000368199.3_Missense_Mutation_p.R244S|SH2D2A_ENST00000368198.3_Missense_Mutation_p.R226S	p.R254S	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN			7	901	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		244			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.762G>C	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656080	0.47467	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.62364	0.07;0.03;0.51	3.92	2.64	0.31445	.	1.165750	0.06025	N	0.652101	T	0.49626	0.1568	L	0.32530	0.975	0.25562	N	0.986985	D;D;D	0.76494	0.999;0.997;0.997	D;P;P	0.67382	0.951;0.895;0.895	T	0.36286	-0.9754	10	0.30854	T	0.27	-14.9673	5.4464	0.16537	0.0:0.6663:0.0:0.3337	.	254;226;244	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	S	244;226;254	ENSP00000357182:R244S;ENSP00000357181:R226S;ENSP00000376123:R254S	ENSP00000357181:R226S	R	-	3	2	SH2D2A	155045889	0.935000	0.31712	0.998000	0.56505	0.529000	0.34654	-0.017000	0.12590	0.642000	0.30620	0.555000	0.69702	AGG		0.657	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		6	129	0	0	0	0.248553	0	6	129				
RPL32P3	132241	broad.mit.edu	37	3	129116038	129116038	+	RNA	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:129116038C>T	ENST00000514355.1	-	0	412				SNORA7B_ENST00000384360.1_RNA					ribosomal protein L32 pseudogene 3											lung(1)	1						GAGGCTTTCCCGCCCAGGGAC	0.567																																						ENST00000514355.1																			0				lung(1)	1															146.0	143.0	144.0					3																	129116038		876	1991	2867			132241							g.chr3:129116038C>T	AK096589, AL117606		3q21.3	2014-03-20			ENSG00000251474	ENSG00000251474			27024	pseudogene	pseudogene						12477932	Standard	NR_003111		Approved		uc003ema.4		OTTHUMG00000159465		3.37:g.129116038C>T														0	412	-									RNA	SNP	ENST00000514355.1	37																																																																																						0.567	RPL32P3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000355880.1			6	246	0	0	0	0.307466	0	6	246				
EHMT1	79813	broad.mit.edu	37	9	140611120	140611120	+	Missense_Mutation	SNP	C	C	G	rs386739686|rs79514677	byFrequency	TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr9:140611120C>G	ENST00000460843.1	+	3	155	c.128C>G	c.(127-129)gCa>gGa	p.A43G	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.A12G|EHMT1_ENST00000462484.1_Missense_Mutation_p.A43G	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	43			A -> V (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.A12V(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GAGAAACAGGCAGGAGAGGCC	0.562													c|||	116	0.0231629	0.0817	0.0086	5008	,	,		17796	0.0		0.002	False		,,,				2504	0.0					ENST00000460843.1																			1	Substitution - Missense(1)	p.A12V(1)	breast(1)	breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(127-129)gCa>gGa		euchromatic histone-lysine N-methyltransferase 1			GLY/ALA,GLY/ALA	284,4122	143.1+/-178.2	17,250,1936	82.0	84.0	83.0		128,128	1.7	0.1	9	dbSNP_131	83	6,8590	3.0+/-9.4	0,6,4292	yes	missense,missense	EHMT1	NM_001145527.1,NM_024757.4	60,60	17,256,6228	GG,GC,CC		0.0698,6.4458,2.2304	benign,benign	43/809,43/1299	140611120	290,12712	2203	4298	6501	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140611120C>G	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.128C>G	9.37:g.140611120C>G	ENSP00000417980:p.Ala43Gly					EHMT1_ENST00000334856.6_Missense_Mutation_p.A12G|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.A43G	p.A43G	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	3	155	+	all_cancers(76;0.164)		43		A -> V (in a breast cancer sample; somatic mutation).			B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.128C>G	CCDS7050.2	45	0.020604395604395604	42	0.08536585365853659	3	0.008287292817679558	0	0.0	0	0.0	c	7.126	0.578990	0.13686	0.064458	6.98E-4	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.69435	1.68;0.95;-0.4	5.61	1.67	0.24075	.	0.289408	0.28577	N	0.014860	T	0.00784	0.0026	N	0.00347	-1.61	0.09310	N	0.999993	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.12553	-1.0543	10	0.15952	T	0.53	.	2.6562	0.05013	0.0941:0.341:0.2974:0.2674	.	43;12;43	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	G	12;12;43;43	ENSP00000334476:A12G;ENSP00000417328:A43G;ENSP00000417980:A43G	ENSP00000334476:A12G	A	+	2	0	EHMT1	139730941	0.494000	0.26043	0.069000	0.20011	0.980000	0.70556	0.641000	0.24720	0.049000	0.15920	0.546000	0.68486	GCA		0.562	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		20	49	0	0	0	0.681144	0	20	49				
ZFHX4	79776	broad.mit.edu	37	8	77618806	77618806	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr8:77618806A>G	ENST00000521891.2	+	2	2931	c.2483A>G	c.(2482-2484)aAc>aGc	p.N828S	ZFHX4_ENST00000455469.2_Missense_Mutation_p.N828S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N828S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.N828S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	828					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTAGCCCAGAACATAGGCCTG	0.542										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(2482-2484)aAc>aGc		zinc finger homeobox 4							17.0	17.0	17.0					8																	77618806		1986	4164	6150	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618806A>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2483A>G	8.37:g.77618806A>G	ENSP00000430497:p.Asn828Ser	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Missense_Mutation_p.N828S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N828S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.N828S|ZFHX4_ENST00000517683.1_Intron	p.N828S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2931	+			828					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.2483A>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	11.36	1.614346	0.28712	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53206	0.66;0.66;0.63;0.63	4.91	4.91	0.64330	.	0.000000	0.47093	U	0.000251	T	0.61800	0.2376	L	0.52364	1.645	0.80722	D	1	D;D;D;B	0.67145	0.993;0.996;0.996;0.178	D;D;D;B	0.73380	0.956;0.98;0.98;0.234	T	0.60969	-0.7157	10	0.41790	T	0.15	.	14.9861	0.71348	1.0:0.0:0.0:0.0	.	828;828;828;828	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	S	828	ENSP00000430497:N828S;ENSP00000399605:N828S;ENSP00000050961:N828S;ENSP00000430848:N828S	ENSP00000050961:N828S	N	+	2	0	ZFHX4	77781361	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.335000	0.79234	2.179000	0.69175	0.477000	0.44152	AAC		0.542	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		11	18	0	0	0	0.387290	0	11	18				
EDNRB	1910	broad.mit.edu	37	13	78477314	78477314	+	Missense_Mutation	SNP	C	C	A	rs77132068	byFrequency	TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr13:78477314C>A	ENST00000334286.5	-	3	1014	c.778G>T	c.(778-780)Gtt>Ttt	p.V260F	EDNRB_ENST00000377211.4_Missense_Mutation_p.V350F|EDNRB_ENST00000446573.1_Missense_Mutation_p.V260F	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	260					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	GTCTTCTGAACGGGATGAAGC	0.408													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20053	0.0		0.001	False		,,,				2504	0.0					ENST00000377211.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42						c.(1048-1050)Gtt>Ttt		endothelin receptor type B	Bosentan(DB00559)	C	PHE/VAL,PHE/VAL,PHE/VAL,PHE/VAL	0,4406		0,0,2203	127.0	128.0	128.0		778,778,1048,778	0.3	0.0	13	dbSNP_131	128	19,8581	13.3+/-46.6	0,19,4281	yes	missense,missense,missense,missense	EDNRB	NM_000115.3,NM_001122659.2,NM_001201397.1,NM_003991.3	50,50,50,50	0,19,6484	AA,AC,CC		0.2209,0.0,0.1461	benign,benign,benign,benign	260/443,260/443,350/533,260/437	78477314	19,12987	2203	4300	6503	SO:0001583	missense	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78477314C>A	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.778G>T	13.37:g.78477314C>A	ENSP00000335311:p.Val260Phe					EDNRB_ENST00000446573.1_Missense_Mutation_p.V260F|EDNRB_ENST00000334286.5_Missense_Mutation_p.V260F	p.V350F	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	4	1200	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	260					A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	c.1048G>T	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	C	0.271	-0.992745	0.02162	0.0	0.002209	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.72505	-0.66;-0.66;-0.66	5.62	0.295	0.15752	GPCR, rhodopsin-like superfamily (1);	0.448229	0.28257	N	0.016005	T	0.44074	0.1276	N	0.21282	0.65	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.15052	0.007;0.009;0.012	T	0.13764	-1.0497	10	0.09338	T	0.73	-0.6465	1.8191	0.03106	0.1214:0.2116:0.126:0.5409	.	260;350;260	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	F	350;260;260	ENSP00000366416:V350F;ENSP00000403401:V260F;ENSP00000335311:V260F	ENSP00000335311:V260F	V	-	1	0	EDNRB	77375315	0.000000	0.05858	0.007000	0.13788	0.559000	0.35586	0.083000	0.14871	-0.160000	0.11002	-0.312000	0.09012	GTT		0.408	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			25	262	1	0	9.57634e-11	0.654019	1.10273e-10	25	262				
MPRIP	23164	broad.mit.edu	37	17	17064559	17064559	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:17064559G>C	ENST00000341712.4	+	15	2052	c.2052G>C	c.(2050-2052)gaG>gaC	p.E684D	MPRIP_ENST00000395811.5_Missense_Mutation_p.E684D|MPRIP_ENST00000395804.3_Missense_Mutation_p.E684D|MPRIP_ENST00000444976.1_Missense_Mutation_p.E646D			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	684	Interaction with RHOA.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AACAGCTGGAGCAGAGCCAGA	0.567																																						ENST00000395811.5																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(2050-2052)gaG>gaC		myosin phosphatase Rho interacting protein							27.0	27.0	27.0					17																	17064559		2203	4300	6503	SO:0001583	missense	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17064559G>C	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2052G>C	17.37:g.17064559G>C	ENSP00000342379:p.Glu684Asp					MPRIP_ENST00000444976.1_Missense_Mutation_p.E646D|MPRIP_ENST00000395804.3_Missense_Mutation_p.E684D|MPRIP_ENST00000341712.4_Missense_Mutation_p.E684D	p.E684D	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN			15	2141	+			684			Interaction with RHOA.		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	c.2052G>C	CCDS32578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.22|17.22	3.335228|3.335228	0.60853|0.60853	.|.	.|.	ENSG00000133030|ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712|ENST00000423885	T;T;T;T|.	0.27557|.	1.66;1.99;2.0;2.0|.	5.32|5.32	2.85|2.85	0.33270|0.33270	.|.	.|.	.|.	.|.	.|.	T|T	0.33000|0.33000	0.0848|0.0848	N|N	0.08118|0.08118	0|0	0.48632|0.48632	D|D	0.999687|0.999687	D;P|.	0.76494|.	0.999;0.924|.	D;P|.	0.77557|.	0.99;0.452|.	T|T	0.05131|0.05131	-1.0904|-1.0904	9|5	0.51188|.	T|.	0.08|.	.|.	10.3773|10.3773	0.44090|0.44090	0.1847:0.0:0.8153:0.0|0.1847:0.0:0.8153:0.0	.|.	684;684|.	Q6WCQ1-2;Q6WCQ1|.	.;MPRIP_HUMAN|.	D|T	646;684;684;684|171	ENSP00000400189:E646D;ENSP00000379156:E684D;ENSP00000379149:E684D;ENSP00000342379:E684D|.	ENSP00000342379:E684D|.	E|S	+|+	3|2	2|0	MPRIP|MPRIP	17005284|17005284	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.736000|0.736000	0.42039|0.42039	1.829000|1.829000	0.39121|0.39121	0.634000|0.634000	0.30469|0.30469	-0.251000|-0.251000	0.11542|0.11542	GAG|AGC		0.567	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		22	23	0	0	0	0.654019	0	22	23				
KIAA1549	57670	broad.mit.edu	37	7	138602905	138602905	+	Silent	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr7:138602905A>G	ENST00000422774.1	-	2	1515	c.1467T>C	c.(1465-1467)ccT>ccC	p.P489P	KIAA1549_ENST00000440172.1_Silent_p.P489P|KIAA1549_ENST00000242365.4_Silent_p.P439P			Q9HCM3	K1549_HUMAN	KIAA1549	489						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTGGGACGATAGGTCTGGAGG	0.458			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(1465-1467)ccT>ccC		KIAA1549							35.0	35.0	35.0					7																	138602905		1932	4151	6083	SO:0001819	synonymous_variant	57670					integral to membrane		g.chr7:138602905A>G		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.1467T>C	7.37:g.138602905A>G						KIAA1549_ENST00000242365.4_Silent_p.P439P|KIAA1549_ENST00000422774.1_Silent_p.P489P	p.P489P	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			2	1515	-			489					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.1467T>C	CCDS56513.1																																																																																				0.458	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			17	27	0	0	0	0.520397	0	17	27				
EPS15L1	58513	broad.mit.edu	37	19	16539554	16539554	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr19:16539554T>A	ENST00000248070.6	-	8	656	c.517A>T	c.(517-519)Att>Ttt	p.I173F	EPS15L1_ENST00000455140.2_Missense_Mutation_p.I173F|EPS15L1_ENST00000597937.1_Missense_Mutation_p.I173F|EPS15L1_ENST00000535753.2_Missense_Mutation_p.I173F|EPS15L1_ENST00000594975.1_Missense_Mutation_p.I173F|EPS15L1_ENST00000602009.1_Missense_Mutation_p.I19F	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	173	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TCCTTGTCAATGTCACTGAGG	0.577																																						ENST00000602009.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						c.(55-57)Att>Ttt		epidermal growth factor receptor pathway substrate 15-like 1							127.0	75.0	93.0					19																	16539554		2203	4300	6503	SO:0001583	missense	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16539554T>A	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.517A>T	19.37:g.16539554T>A	ENSP00000248070:p.Ile173Phe					EPS15L1_ENST00000594975.1_Missense_Mutation_p.I173F|EPS15L1_ENST00000455140.2_Missense_Mutation_p.I173F|EPS15L1_ENST00000248070.6_Missense_Mutation_p.I173F|EPS15L1_ENST00000597937.1_Missense_Mutation_p.I173F|EPS15L1_ENST00000535753.2_Missense_Mutation_p.I173F	p.I19F			Q9UBC2	EP15R_HUMAN			2	950	-			173			EH 1.		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	c.55A>T	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	t	20.3	3.971262	0.74246	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.39056	1.1;1.1;1.1	4.87	4.87	0.63330	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.60379	0.2264	M	0.73753	2.245	0.58432	D	0.999994	D;D;D;D;D;D	0.76494	0.992;0.996;0.999;0.999;0.998;0.995	D;D;D;D;D;D	0.76575	0.944;0.972;0.988;0.988;0.985;0.965	T	0.59161	-0.7506	10	0.13470	T	0.59	.	13.706	0.62639	0.0:0.0:0.0:1.0	.	173;173;172;173;173;173	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	F	173	ENSP00000393313:I173F;ENSP00000248070:I173F;ENSP00000440103:I173F	ENSP00000248070:I173F	I	-	1	0	EPS15L1	16400554	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	3.927000	0.56499	1.835000	0.53391	0.449000	0.29647	ATT		0.577	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		7	22	0	0	0	0.307466	0	7	22				
DAPL1	92196	broad.mit.edu	37	2	159672329	159672329	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:159672329G>T	ENST00000309950.3	+	4	376	c.320G>T	c.(319-321)tGt>tTt	p.C107F	DAPL1_ENST00000409042.1_Intron	NM_001017920.2	NP_001017920.2	A0PJW8	DAPL1_HUMAN	death associated protein-like 1	107					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)					prostate(1)	1						CCTCGAAAATGTTAAGCCTGG	0.478																																						ENST00000309950.3																			0				prostate(1)	1						c.(319-321)tGt>tTt		death associated protein-like 1							86.0	80.0	82.0					2																	159672329		2203	4300	6503	SO:0001583	missense	92196				apoptosis|cell differentiation			g.chr2:159672329G>T		CCDS33307.1	2q24	2007-06-26			ENSG00000163331	ENSG00000163331			21490	protein-coding gene	gene with protein product							Standard	NM_001017920		Approved		uc002uaf.3	A0PJW8	OTTHUMG00000153970	ENST00000309950.3:c.320G>T	2.37:g.159672329G>T	ENSP00000309538:p.Cys107Phe					DAPL1_ENST00000409042.1_Intron	p.C107F	NM_001017920.2	NP_001017920.2	A0PJW8	DAPL1_HUMAN			4	376	+			107					A0PJW9|B9EIK6	Missense_Mutation	SNP	ENST00000309950.3	37	c.320G>T	CCDS33307.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685777	0.68157	.	.	ENSG00000163331	ENST00000309950	T	0.40476	1.03	5.58	4.7	0.59300	.	0.107287	0.64402	D	0.000005	T	0.41858	0.1177	N	0.24115	0.695	0.80722	D	1	D	0.54047	0.964	P	0.53954	0.738	T	0.37776	-0.9691	10	0.87932	D	0	.	12.7345	0.57216	0.0819:0.0:0.9181:0.0	.	107	A0PJW8	DAPL1_HUMAN	F	107	ENSP00000309538:C107F	ENSP00000309538:C107F	C	+	2	0	DAPL1	159380575	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.316000	0.59178	2.641000	0.89580	0.563000	0.77884	TGT		0.478	DAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333265.1	NM_001017920		15	111	1	0	6.31663e-08	0.479597	7.20095e-08	15	111				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			101927209							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			6	104	0	0	0	0.248553	0	6	104				
SLIT1	6585	broad.mit.edu	37	10	98817000	98817000	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr10:98817000C>T	ENST00000266058.4	-	12	1369	c.1124G>A	c.(1123-1125)gGt>gAt	p.G375D	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.G375D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	375					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCCAAACACACCACGGGGGAG	0.567																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(1123-1125)gGt>gAt		slit homolog 1 (Drosophila)							96.0	86.0	89.0					10																	98817000		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98817000C>T	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1124G>A	10.37:g.98817000C>T	ENSP00000266058:p.Gly375Asp					SLIT1_ENST00000371070.4_Missense_Mutation_p.G375D|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	p.G375D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	12	1369	-		Colorectal(252;0.162)	375					Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.1124G>A	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830854	0.91036	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008	T;T;T	0.58652	0.32;0.32;0.32	5.73	5.73	0.89815	.	0.050832	0.85682	D	0.000000	T	0.68997	0.3062	L	0.33093	0.98	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.79108	0.992;0.974	T	0.70457	-0.4866	10	0.66056	D	0.02	.	19.4934	0.95062	0.0:1.0:0.0:0.0	.	385;375	E7EWQ8;O75093	.;SLIT1_HUMAN	D	375;385;351;375;368;351	ENSP00000266058:G375D;ENSP00000360109:G375D;ENSP00000315005:G368D	ENSP00000266058:G375D	G	-	2	0	SLIT1	98806990	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.361000	0.79497	2.713000	0.92767	0.655000	0.94253	GGT		0.567	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		33	64	0	0	0	0.804634	0	33	64				
VRTN	55237	broad.mit.edu	37	14	74823530	74823530	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr14:74823530T>G	ENST00000256362.4	+	2	285	c.44T>G	c.(43-45)cTg>cGg	p.L15R		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	15					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CTGCAGGAGCTGCAGGAAGCA	0.587																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(43-45)cTg>cGg		vertebrae development associated							84.0	80.0	81.0					14																	74823530		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74823530T>G	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.44T>G	14.37:g.74823530T>G	ENSP00000256362:p.Leu15Arg						p.L15R	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	285	+			15					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.44T>G	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.410273	0.62399	.	.	ENSG00000133980	ENST00000557177;ENST00000256362	T;T	0.46819	0.86;0.86	4.9	4.9	0.64082	.	0.087858	0.47455	D	0.000239	T	0.52075	0.1712	L	0.27053	0.805	0.50313	D	0.999863	D	0.61697	0.99	P	0.61722	0.893	T	0.57075	-0.7873	10	0.87932	D	0	0.0368	13.2353	0.59967	0.0:0.0:0.0:1.0	.	15	Q9H8Y1	VRTN_HUMAN	R	15	ENSP00000452158:L15R;ENSP00000256362:L15R	ENSP00000256362:L15R	L	+	2	0	VRTN	73893283	1.000000	0.71417	0.999000	0.59377	0.854000	0.48673	7.097000	0.76967	2.059000	0.61396	0.459000	0.35465	CTG		0.587	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		27	45	0	0	0	0.804634	0	27	45				
CHST10	9486	broad.mit.edu	37	2	101009797	101009797	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:101009797G>C	ENST00000264249.3	-	7	1366	c.981C>G	c.(979-981)atC>atG	p.I327M	CHST10_ENST00000409701.1_Missense_Mutation_p.I327M|CHST10_ENST00000542617.1_Missense_Mutation_p.I375M	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	327					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						CTCGTTTGCTGATGCCCAGGA	0.488																																						ENST00000264249.3																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						c.(979-981)atC>atG		carbohydrate sulfotransferase 10							149.0	135.0	140.0					2																	101009797		2203	4300	6503	SO:0001583	missense	9486				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		g.chr2:101009797G>C	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.981C>G	2.37:g.101009797G>C	ENSP00000264249:p.Ile327Met					CHST10_ENST00000409701.1_Missense_Mutation_p.I327M|CHST10_ENST00000542617.1_Missense_Mutation_p.I375M	p.I327M	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN			7	1366	-			327					Q53T18	Missense_Mutation	SNP	ENST00000264249.3	37	c.981C>G	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.453035	0.63290	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701	T;T;T	0.75938	2.02;-0.98;2.02	5.91	2.91	0.33838	.	0.237597	0.49916	D	0.000133	T	0.74512	0.3726	M	0.63843	1.955	0.52099	D	0.999947	P	0.42518	0.782	P	0.51742	0.678	T	0.72137	-0.4381	10	0.54805	T	0.06	-15.0746	3.0047	0.06025	0.1557:0.0909:0.4562:0.2972	.	327	O43529	CHSTA_HUMAN	M	327;375;327	ENSP00000264249:I327M;ENSP00000438869:I375M;ENSP00000387309:I327M	ENSP00000264249:I327M	I	-	3	3	CHST10	100376229	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	1.358000	0.34102	0.804000	0.34136	-0.140000	0.14226	ATC		0.488	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		14	204	0	0	0	0.479597	0	14	204				
AVIL	10677	broad.mit.edu	37	12	58207197	58207197	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr12:58207197C>A	ENST00000257861.3	-	3	581	c.151G>T	c.(151-153)Gtg>Ttg	p.V51L	RP11-571M6.18_ENST00000602327.1_lincRNA|AVIL_ENST00000537081.1_Missense_Mutation_p.V44L	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	51	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGACTGGCCACTCTCCGGGTC	0.577																																						ENST00000537081.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32						c.(130-132)Gtg>Ttg		advillin							62.0	58.0	59.0					12																	58207197		2203	4300	6503	SO:0001583	missense	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58207197C>A	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.151G>T	12.37:g.58207197C>A	ENSP00000257861:p.Val51Leu					AVIL_ENST00000257861.3_Missense_Mutation_p.V51L	p.V44L			O75366	AVIL_HUMAN			3	129	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		51			Core (By similarity).		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	c.130G>T	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	C	8.029	0.761300	0.15914	.	.	ENSG00000135407	ENST00000537081;ENST00000257861;ENST00000549994	T;T;T	0.16743	2.32;2.32;2.32	4.73	2.73	0.32206	Gelsolin domain (1);	1.054110	0.07372	N	0.885912	T	0.17874	0.0429	L	0.41124	1.26	0.22610	N	0.998936	B;B;B	0.19445	0.001;0.001;0.036	B;B;B	0.32211	0.009;0.006;0.142	T	0.38802	-0.9644	10	0.17832	T	0.49	-3.6266	10.7575	0.46245	0.5232:0.4768:0.0:0.0	.	44;51;51	O75366-2;F8VVU1;O75366	.;.;AVIL_HUMAN	L	44;51;51	ENSP00000443207:V44L;ENSP00000257861:V51L;ENSP00000449239:V51L	ENSP00000257861:V51L	V	-	1	0	AVIL	56493464	0.034000	0.19679	0.982000	0.44146	0.542000	0.35054	0.313000	0.19415	1.317000	0.45149	0.655000	0.94253	GTG		0.577	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		48	81	1	0	8.04919e-23	0.870114	9.65902e-23	48	81				
HTR7	3363	broad.mit.edu	37	10	92616929	92616929	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr10:92616929G>A	ENST00000336152.3	-	1	526	c.500C>T	c.(499-501)aCg>aTg	p.T167M	HTR7_ENST00000371719.2_Missense_Mutation_p.T167M|HTR7_ENST00000371721.3_Missense_Mutation_p.T167M|HTR7_ENST00000277874.6_Missense_Mutation_p.T167M	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	167					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GATCGAGGCCGTGCAGCACAT	0.617																																						ENST00000371721.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(499-501)aCg>aTg		5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						50.0	37.0	42.0					10																	92616929		2203	4300	6503	SO:0001583	missense	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92616929G>A	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.500C>T	10.37:g.92616929G>A	ENSP00000337949:p.Thr167Met					HTR7_ENST00000336152.3_Missense_Mutation_p.T167M|HTR7_ENST00000371719.2_Missense_Mutation_p.T167M|HTR7_ENST00000277874.6_Missense_Mutation_p.T167M	p.T167M			P34969	5HT7R_HUMAN			1	742	-			167					B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	c.500C>T	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103133	0.94245	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.15372	2.43;2.43;2.43;2.43	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55609	0.1931	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70861	-0.4757	10	0.87932	D	0	.	18.2215	0.89903	0.0:0.0:1.0:0.0	.	167;167	P34969;P34969-2	5HT7R_HUMAN;.	M	167	ENSP00000337949:T167M;ENSP00000277874:T167M;ENSP00000360784:T167M;ENSP00000360786:T167M	ENSP00000277874:T167M	T	-	2	0	HTR7	92606909	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.866000	0.99616	2.309000	0.77851	0.563000	0.77884	ACG		0.617	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		3	39	0	0	0	0.115264	0	3	39				
ANGEL2	90806	broad.mit.edu	37	1	213178426	213178426	+	Silent	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:213178426A>G	ENST00000366962.3	-	5	1237	c.1083T>C	c.(1081-1083)taT>taC	p.Y361Y	ANGEL2_ENST00000360506.2_Silent_p.Y192Y|ANGEL2_ENST00000473303.1_5'Flank|ANGEL2_ENST00000540642.1_Silent_p.Y235Y|ANGEL2_ENST00000535388.1_Silent_p.Y192Y|ANGEL2_ENST00000544555.1_Silent_p.Y192Y	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	361										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TTATGAAACTATATAGTGGAG	0.408																																						ENST00000366962.3																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24						c.(1081-1083)taT>taC		angel homolog 2 (Drosophila)							69.0	69.0	69.0					1																	213178426		2203	4300	6503	SO:0001819	synonymous_variant	90806							g.chr1:213178426A>G	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.1083T>C	1.37:g.213178426A>G						ANGEL2_ENST00000360506.2_Silent_p.Y192Y|ANGEL2_ENST00000535388.1_Silent_p.Y192Y|ANGEL2_ENST00000540642.1_Silent_p.Y235Y|ANGEL2_ENST00000544555.1_Silent_p.Y192Y	p.Y361Y	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	5	1237	-			361					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Silent	SNP	ENST00000366962.3	37	c.1083T>C	CCDS1512.1																																																																																				0.408	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		58	98	0	0	0	0.870114	0	58	98				
HNRNPU	3192	broad.mit.edu	37	1	245022119	245022119	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:245022119T>C	ENST00000283179.9	-	6	1305	c.1142A>G	c.(1141-1143)tAt>tGt	p.Y381C	HNRNPU_ENST00000444376.2_Missense_Mutation_p.Y362C			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	381	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTTTAGAGAATACCCATAAGA	0.289																																					NSCLC(33;911 1010 3329 23631 49995)	ENST00000444376.2																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1084-1086)tAt>tGt		heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)							94.0	91.0	92.0					1																	245022119		2201	4297	6498	SO:0001583	missense	3192				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	g.chr1:245022119T>C	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1142A>G	1.37:g.245022119T>C	ENSP00000283179:p.Tyr381Cys					HNRNPU_ENST00000283179.9_Missense_Mutation_p.Y381C	p.Y362C	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		6	1319	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		381			B30.2/SPRY.		O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	ENST00000283179.9	37	c.1085A>G	CCDS41479.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.187252	0.78789	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948;ENST00000440865	T;T;T	0.76709	-1.04;-1.04;-1.04	5.79	5.79	0.91817	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.91962	0.7454	H	0.96208	3.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.988;0.997;0.999;0.979	D	0.94362	0.7588	10	0.87932	D	0	-10.4673	16.1169	0.81309	0.0:0.0:0.0:1.0	.	306;362;381;105	B3KX72;Q00839-2;Q00839;Q5RI19	.;.;HNRPU_HUMAN;.	C	362;381;306;158	ENSP00000393151:Y362C;ENSP00000283179:Y381C;ENSP00000410728:Y158C	ENSP00000283179:Y381C	Y	-	2	0	HNRNPU	243088742	1.000000	0.71417	0.996000	0.52242	0.864000	0.49448	6.174000	0.71943	2.205000	0.71048	0.482000	0.46254	TAT		0.289	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		4	94	0	0	0	0.150653	0	4	94				
GRSF1	2926	broad.mit.edu	37	4	71693661	71693661	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr4:71693661T>G	ENST00000254799.6	-	6	1160	c.1043A>C	c.(1042-1044)aAg>aCg	p.K348T	GRSF1_ENST00000439371.1_Missense_Mutation_p.K186T|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000545193.1_Missense_Mutation_p.K230T|GRSF1_ENST00000502323.1_Missense_Mutation_p.K186T	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	348					anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			AGTTATATACTTAGCAGTAGG	0.373																																						ENST00000254799.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17						c.(1042-1044)aAg>aCg		G-rich RNA sequence binding factor 1							194.0	191.0	192.0					4																	71693661		1860	4096	5956	SO:0001583	missense	2926				mRNA polyadenylation		mRNA binding|nucleotide binding	g.chr4:71693661T>G	BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"""RNA binding motif (RRM) containing"""	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.1043A>C	4.37:g.71693661T>G	ENSP00000254799:p.Lys348Thr					GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Missense_Mutation_p.K186T|GRSF1_ENST00000545193.1_Missense_Mutation_p.K230T|GRSF1_ENST00000439371.1_Missense_Mutation_p.K186T	p.K348T	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	Lung(101;0.235)		6	1160	-		all_hematologic(202;0.21)	348					B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Missense_Mutation	SNP	ENST00000254799.6	37	c.1043A>C	CCDS47069.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.1|25.1	4.598946|4.598946	0.87055|0.87055	.|.	.|.	ENSG00000132463|ENSG00000132463	ENST00000254799;ENST00000439371;ENST00000540657;ENST00000499044;ENST00000502323;ENST00000545193|ENST00000514161	T;T;T;T;T|.	0.19532|.	2.14;2.21;2.14;2.21;2.22|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.510962|.	0.22261|.	N|.	0.062402|.	T|T	0.57475|0.57475	0.2056|0.2056	L|L	0.27053|0.27053	0.805|0.805	0.41257|0.41257	D|D	0.986752|0.986752	D;P|.	0.54601|.	0.967;0.931|.	B;B|.	0.44224|.	0.432;0.444|.	T|T	0.60546|0.60546	-0.7242|-0.7242	10|6	0.14656|0.54805	T|T	0.56|0.06	-11.1592|-11.1592	15.6176|15.6176	0.76780|0.76780	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	261;348|.	B7Z5F9;Q12849|.	.;GRSF1_HUMAN|.	T|R	348;186;280;321;186;230|285	ENSP00000254799:K348T;ENSP00000389219:K186T;ENSP00000427354:K321T;ENSP00000425430:K186T;ENSP00000443380:K230T|.	ENSP00000254799:K348T|ENSP00000427644:S113R	K|S	-|-	2|1	0|0	GRSF1|GRSF1	71912525|71912525	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	2.431000|2.431000	0.44775|0.44775	2.330000|2.330000	0.79161|0.79161	0.477000|0.477000	0.44152|0.44152	AAG|AGT		0.373	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	NM_002092		147	262	0	0	0	0.870114	0	147	262				
IRS1	3667	broad.mit.edu	37	2	227662313	227662313	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:227662313C>T	ENST00000305123.5	-	1	2162	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	IRS1_ENST00000498335.1_5'Flank|RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	381	Ser-rich.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		AGGCGAGCAGCGGGAAGCCGG	0.677											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(1141-1143)cGc>cAc		insulin receptor substrate 1							33.0	41.0	38.0					2																	227662313		2197	4292	6489	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662313C>T		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1142G>A	2.37:g.227662313C>T	ENSP00000304895:p.Arg381His		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.R381H	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	2162	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	381			Ser-rich.			Missense_Mutation	SNP	ENST00000305123.5	37	c.1142G>A	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280240	0.23392	.	.	ENSG00000169047	ENST00000305123	T	0.56611	0.45	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000001	T	0.51618	0.1685	N	0.08118	0	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.45190	-0.9278	10	0.06891	T	0.86	-19.8765	19.3349	0.94312	0.0:1.0:0.0:0.0	.	381	P35568	IRS1_HUMAN	H	381	ENSP00000304895:R381H	ENSP00000304895:R381H	R	-	2	0	IRS1	227370557	1.000000	0.71417	0.984000	0.44739	0.924000	0.55760	5.725000	0.68507	2.564000	0.86499	0.462000	0.41574	CGC		0.677	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		4	44	0	0	0	0.150653	0	4	44				
BUB1B	701	broad.mit.edu	37	15	40476084	40476084	+	Splice_Site	SNP	G	G	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:40476084G>C	ENST00000287598.6	+	6	946	c.751G>C	c.(751-753)Gct>Cct	p.A251P	BUB1B_ENST00000412359.3_Splice_Site_p.A265P	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	251					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TGCTCTCAAGGGTAAGTTTGT	0.388			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													ENST00000287598.6			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	"""Mis, N, F, S"""	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36						c.e6+1		BUB1 mitotic checkpoint serine/threonine kinase B							72.0	68.0	70.0					15																	40476084		2203	4300	6503	SO:0001630	splice_region_variant	701	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40476084G>C	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.751+1G>C	15.37:g.40476084G>C						BUB1B_ENST00000412359.3_Splice_Site_p.A265_splice	p.A251_splice	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	6	946	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	251					B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Splice_Site	SNP	ENST00000287598.6	37	c.751_splice	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303593	0.40795	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.15603	2.41;2.43	5.31	3.41	0.39046	.	0.512295	0.20336	N	0.094332	T	0.13756	0.0333	L	0.48362	1.52	0.40286	D	0.978453	B;B	0.17038	0.019;0.02	B;B	0.16289	0.015;0.007	T	0.07908	-1.0748	10	0.40728	T	0.16	-2.2377	5.1962	0.15239	0.0738:0.2701:0.5168:0.1393	.	265;251	O60566-3;O60566	.;BUB1B_HUMAN	P	251;265;197	ENSP00000287598:A251P;ENSP00000398470:A265P	ENSP00000287598:A251P	A	+	1	0	BUB1B	38263376	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	1.520000	0.35899	0.612000	0.30071	0.491000	0.48974	GCT		0.388	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4		Missense_Mutation	20	42	0	0	0	0.575678	0	20	42				
DGCR14	8220	broad.mit.edu	37	22	19127229	19127229	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr22:19127229T>C	ENST00000252137.6	-	5	627	c.584A>G	c.(583-585)aAt>aGt	p.N195S		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	195					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GAGTTCGAGATTATCTTTCTG	0.562																																						ENST00000252137.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16						c.(583-585)aAt>aGt		DiGeorge syndrome critical region gene 14							152.0	140.0	144.0					22																	19127229		2203	4300	6503	SO:0001583	missense	8220				nervous system development	catalytic step 2 spliceosome		g.chr22:19127229T>C	L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.584A>G	22.37:g.19127229T>C	ENSP00000252137:p.Asn195Ser						p.N195S	NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN			5	627	-	Colorectal(54;0.0993)		195					Q49AH7|Q9BTZ4	Missense_Mutation	SNP	ENST00000252137.6	37	c.584A>G	CCDS13756.1	.	.	.	.	.	.	.	.	.	.	T	2.136	-0.397841	0.04865	.	.	ENSG00000100056	ENST00000252137	T	0.41400	1.0	4.47	2.31	0.28768	.	0.046498	0.85682	N	0.000000	T	0.25717	0.0626	L	0.34521	1.04	0.53688	D	0.999971	B	0.06786	0.001	B	0.09377	0.004	T	0.08351	-1.0726	10	0.08599	T	0.76	-7.6761	8.6123	0.33811	0.0:0.1637:0.0:0.8363	.	195	Q96DF8	DGC14_HUMAN	S	195	ENSP00000252137:N195S	ENSP00000252137:N195S	N	-	2	0	DGCR14	17507229	0.998000	0.40836	0.625000	0.29200	0.723000	0.41478	2.015000	0.40961	0.244000	0.21351	0.383000	0.25322	AAT		0.562	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2			5	185	0	0	0	0.217242	0	5	185				
SUZ12P1	440423	broad.mit.edu	37	17	29061824	29061824	+	RNA	SNP	C	C	T	rs369744974		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:29061824C>T	ENST00000582557.1	+	0	744																											TAGCAGATGACAAGTTTATAT	0.308																																						ENST00000582557.1																			0																																																			440423							g.chr17:29061824C>T																													17.37:g.29061824C>T														0	744	+									RNA	SNP	ENST00000582557.1	37																																																																																						0.308	SUZ12P-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444260.1			12	88	0	0	0	0.387290	0	12	88				
KLF13	51621	broad.mit.edu	37	15	31664225	31664225	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:31664225T>C	ENST00000307145.3	+	2	948	c.590T>C	c.(589-591)tTc>tCc	p.F197S	KLF13_ENST00000560473.1_Missense_Mutation_p.F9S	NM_015995.2	NP_057079.2	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13	197					negative regulation of cell proliferation (GO:0008285)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)	2		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)		GAGAGGCCCTTCGCCTGCAGC	0.662																																						ENST00000307145.3																			0				NS(1)|breast(1)	2						c.(589-591)tTc>tCc		Kruppel-like factor 13							19.0	18.0	18.0					15																	31664225		2200	4296	6496	SO:0001583	missense	51621				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr15:31664225T>C	AF132599	CCDS10025.1	15q13.3	2013-01-08			ENSG00000169926	ENSG00000169926		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	13672	protein-coding gene	gene with protein product		605328				10415854, 10023774	Standard	NM_015995		Approved	RFLAT-1, BTEB3, NSLP1, FKLF-2	uc001zfo.3	Q9Y2Y9	OTTHUMG00000172224	ENST00000307145.3:c.590T>C	15.37:g.31664225T>C	ENSP00000302456:p.Phe197Ser					KLF13_ENST00000560473.1_Missense_Mutation_p.F9S	p.F197S	NM_015995.2	NP_057079.2	Q9Y2Y9	KLF13_HUMAN		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)	2	948	+		all_lung(180;3.71e-11)	197					Q9Y356	Missense_Mutation	SNP	ENST00000307145.3	37	c.590T>C	CCDS10025.1	.	.	.	.	.	.	.	.	.	.	T	30	5.055255	0.93793	.	.	ENSG00000169926	ENST00000307145	T	0.24908	1.83	5.07	5.07	0.68467	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.54759	0.1878	M	0.82716	2.605	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	T	0.62426	-0.6857	10	0.87932	D	0	.	15.116	0.72404	0.0:0.0:0.0:1.0	.	197	Q9Y2Y9	KLF13_HUMAN	S	197	ENSP00000302456:F197S	ENSP00000302456:F197S	F	+	2	0	KLF13	29451517	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.540000	0.82074	2.036000	0.60181	0.533000	0.62120	TTC		0.662	KLF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251381.1	NM_015995		4	11	0	0	0	0.150653	0	4	11				
LRIG3	121227	broad.mit.edu	37	12	59284527	59284527	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr12:59284527C>G	ENST00000320743.3	-	4	721	c.435G>C	c.(433-435)caG>caC	p.Q145H	LRIG3_ENST00000379141.4_Missense_Mutation_p.Q85H	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	145					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTTCAAGGGACTGAAACTCTT	0.388			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(433-435)caG>caC		leucine-rich repeats and immunoglobulin-like domains 3							89.0	88.0	88.0					12																	59284527		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59284527C>G	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.435G>C	12.37:g.59284527C>G	ENSP00000326759:p.Gln145His					LRIG3_ENST00000379141.4_Missense_Mutation_p.Q85H	p.Q145H	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		4	721	-			145					Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.435G>C	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900963	0.33535	.	.	ENSG00000139263	ENST00000379141;ENST00000320743;ENST00000552267	T;T;T	0.10099	2.91;2.91;2.91	5.87	-10.7	0.00240	.	0.000000	0.34932	N	0.003566	T	0.11153	0.0272	L	0.48935	1.535	0.25947	N	0.982799	B;D	0.54397	0.014;0.966	B;P	0.55161	0.038;0.77	T	0.06625	-1.0816	9	.	.	.	.	8.9497	0.35781	0.1688:0.2603:0.0:0.5709	.	85;145	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	H	85;145;52	ENSP00000368436:Q85H;ENSP00000326759:Q145H;ENSP00000449109:Q52H	.	Q	-	3	2	LRIG3	57570794	0.000000	0.05858	0.276000	0.24689	0.989000	0.77384	-2.932000	0.00688	-2.071000	0.00880	-0.290000	0.09829	CAG		0.388	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		13	128	0	0	0	0.411799	0	13	128				
FAM9B	171483	broad.mit.edu	37	X	9000465	9000465	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chrX:9000465G>A	ENST00000327220.5	-	3	430	c.66C>T	c.(64-66)aaC>aaT	p.N22N	FAM9B_ENST00000362066.3_Silent_p.N67N|FAM9B_ENST00000428477.1_Silent_p.N22N			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	22						nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				CTGTAAAACGGTTTCTTTCCT	0.398																																						ENST00000362066.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						c.(199-201)aaC>aaT		family with sequence similarity 9, member B							238.0	196.0	210.0					X																	9000465		2203	4300	6503	SO:0001819	synonymous_variant	171483					nucleus		g.chrX:9000465G>A		CCDS14132.1	Xp22.31	2014-02-17			ENSG00000177138	ENSG00000177138			18404	protein-coding gene	gene with protein product	"""testis expressed 39B"""	300478				12213195, 21085121, 21998597, 22936694	Standard	XM_005274456		Approved	TEX39B	uc011mhu.2	Q8IZU0	OTTHUMG00000021114	ENST00000327220.5:c.66C>T	X.37:g.9000465G>A						FAM9B_ENST00000428477.1_Silent_p.N22N|FAM9B_ENST00000327220.5_Silent_p.N22N	p.N67N			Q8IZU0	FAM9B_HUMAN			2	389	-		Hepatocellular(5;0.219)	22					Q0IJ68|Q8N7Z8	Silent	SNP	ENST00000327220.5	37	c.201C>T	CCDS14132.1																																																																																				0.398	FAM9B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055702.2	NM_205849		5	251	0	0	0	0.217242	0	5	251				
TDRD7	23424	broad.mit.edu	37	9	100249509	100249509	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr9:100249509G>A	ENST00000355295.4	+	16	3266	c.2971G>A	c.(2971-2973)Gag>Aag	p.E991K	TDRD7_ENST00000540902.1_Missense_Mutation_p.E311K|TDRD7_ENST00000422139.2_Missense_Mutation_p.E917K	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	991	Interacts with CABLES1. {ECO:0000250}.|Interacts with CDK17. {ECO:0000250}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ATCTGTGTATGAGCTGGATTA	0.418																																						ENST00000355295.4																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2971-2973)Gag>Aag		tudor domain containing 7							138.0	132.0	134.0					9																	100249509		2203	4300	6503	SO:0001583	missense	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100249509G>A	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.2971G>A	9.37:g.100249509G>A	ENSP00000347444:p.Glu991Lys					TDRD7_ENST00000540902.1_Missense_Mutation_p.E311K|TDRD7_ENST00000422139.2_Missense_Mutation_p.E917K	p.E991K	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN			16	3266	+		Acute lymphoblastic leukemia(62;0.158)	991			Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity).		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	ENST00000355295.4	37	c.2971G>A	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	G	35	5.421740	0.96111	.	.	ENSG00000196116	ENST00000355295;ENST00000422139;ENST00000540902	T;T;T	0.09350	2.99;2.99;2.99	5.75	5.75	0.90469	Maternal tudor protein (1);	0.045522	0.85682	D	0.000000	T	0.29288	0.0729	L	0.57536	1.79	0.54753	D	0.999984	D;D	0.71674	0.965;0.998	P;D	0.67103	0.814;0.949	T	0.00088	-1.2090	10	0.29301	T	0.29	-32.4999	18.8901	0.92397	0.0:0.0:1.0:0.0	.	311;991	Q8NHU6-3;Q8NHU6	.;TDRD7_HUMAN	K	991;917;311	ENSP00000347444:E991K;ENSP00000413608:E917K;ENSP00000440717:E311K	ENSP00000347444:E991K	E	+	1	0	TDRD7	99289330	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	GAG		0.418	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		5	219	0	0	0	0.184627	0	5	219				
CACNA1G	8913	broad.mit.edu	37	17	48677037	48677037	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:48677037G>T	ENST00000359106.5	+	17	3507	c.3507G>T	c.(3505-3507)aaG>aaT	p.K1169N	CACNA1G_ENST00000505165.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.K1146N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.K1146N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.K1146N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.K1146N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000352832.5_Missense_Mutation_p.K1146N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.K1169N	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1169					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGAGGCCAAGAGTTCCTTTG	0.642																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(3436-3438)aaG>aaT		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						30.0	39.0	36.0					17																	48677037		2088	4209	6297	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48677037G>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.3507G>T	17.37:g.48677037G>T	ENSP00000352011:p.Lys1169Asn					CACNA1G_ENST00000503485.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.K1146N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.K1146N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.K1146N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.K1169N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.K1146N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.K1169N	p.K1146N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		16	3810	+	Breast(11;6.7e-17)		1169					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.3438G>T	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	16.05	3.013533	0.54468	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97041	-4.09;-4.09;-4.22;-4.04;-4.08;-4.09;-4.11;-4.17;-4.16;-4.16;-4.18;-4.04;-4.06;-4.12;-4.06;-4.03;-4.1;-4.05;-4.04;-4.1;-4.09;-4.06;-4.1;-4.04;-4.1;-4.11	4.47	3.42	0.39159	.	0.438355	0.22661	N	0.057200	D	0.96150	0.8745	L	0.29908	0.895	0.38270	D	0.942113	D;P;P;D;D;D;D;D;D;P;D;P;P;D;D;B;P;D;D;B;D;P;D;B;P;D	0.67145	0.994;0.645;0.893;0.991;0.992;0.995;0.995;0.986;0.995;0.61;0.973;0.758;0.645;0.973;0.996;0.243;0.949;0.996;0.974;0.354;0.993;0.645;0.992;0.389;0.808;0.97	D;B;B;D;P;P;D;P;D;B;P;P;B;P;D;B;P;D;P;B;D;P;P;B;B;P	0.79108	0.985;0.368;0.427;0.992;0.765;0.882;0.989;0.765;0.989;0.277;0.585;0.572;0.368;0.585;0.918;0.065;0.694;0.925;0.722;0.101;0.977;0.468;0.711;0.147;0.242;0.839	D	0.94970	0.8116	10	0.52906	T	0.07	.	7.0814	0.25234	0.2152:0.0:0.7848:0.0	.	1146;1169;1169;1169;1169;1169;1169;1169;1169;1169;1169;1146;1169;1169;1169;1169;1169;1146;1169;1146;1146;1146;1146;1169;1146;1169	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	N	1146;1146;1169;1146;1146;1146;1169;1169;1146;1169;1169;1169;1169;1169;1169;1146;1169;1169;1169;1169;1146;1169;1169;1169;1169;1169	ENSP00000353990:K1146N;ENSP00000339302:K1146N;ENSP00000392390:K1169N;ENSP00000347078:K1146N;ENSP00000409759:K1146N;ENSP00000425522:K1146N;ENSP00000426261:K1169N;ENSP00000425451:K1169N;ENSP00000422407:K1146N;ENSP00000426814:K1169N;ENSP00000427238:K1169N;ENSP00000423112:K1169N;ENSP00000420918:K1169N;ENSP00000426172:K1169N;ENSP00000423045:K1169N;ENSP00000427173:K1146N;ENSP00000426098:K1169N;ENSP00000425698:K1169N;ENSP00000426232:K1169N;ENSP00000423317:K1169N;ENSP00000350979:K1146N;ENSP00000352011:K1169N;ENSP00000414388:K1169N;ENSP00000423155:K1169N;ENSP00000422268:K1169N;ENSP00000421518:K1169N	ENSP00000339302:K1146N	K	+	3	2	CACNA1G	46032036	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	2.152000	0.42272	2.322000	0.78497	0.561000	0.74099	AAG		0.642	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		9	38	1	0	0.000442599	0.335167	0.000467188	9	38				
TIPIN	54962	broad.mit.edu	37	15	66641437	66641437	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:66641437C>G	ENST00000261881.4	-	6	521	c.436G>C	c.(436-438)Gat>Cat	p.D146H	SCARNA14_ENST00000516903.1_RNA|Y_RNA_ENST00000411339.1_RNA|TIPIN_ENST00000367709.4_Missense_Mutation_p.D45H	NM_017858.2	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	146					cell cycle phase transition (GO:0044770)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|regulation of nuclear cell cycle DNA replication (GO:0033262)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						ATAGGGAGATCAAGTCGAATT	0.294																																						ENST00000261881.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						c.(436-438)Gat>Cat		TIMELESS interacting protein							62.0	65.0	64.0					15																	66641437		2201	4299	6500	SO:0001583	missense	54962				cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding	g.chr15:66641437C>G	BK001386	CCDS10215.1	15q22.31	2012-03-02	2006-08-08		ENSG00000075131	ENSG00000075131			30750	protein-coding gene	gene with protein product	"""CSM3 homolog (S. cerevisiae)"""	610716				12875843, 17102137	Standard	NM_017858		Approved	FLJ20516	uc002apr.2	Q9BVW5	OTTHUMG00000133188	ENST00000261881.4:c.436G>C	15.37:g.66641437C>G	ENSP00000261881:p.Asp146His					TIPIN_ENST00000367709.4_Missense_Mutation_p.D45H	p.D146H	NM_017858.2	NP_060328.2	Q9BVW5	TIPIN_HUMAN			6	521	-			146					B2CW64|Q9NWZ6	Missense_Mutation	SNP	ENST00000261881.4	37	c.436G>C	CCDS10215.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209300	0.58343	.	.	ENSG00000075131	ENST00000367709;ENST00000261881	T;T	0.47177	0.85;0.85	5.11	5.11	0.69529	Replication fork protection component Swi3 (2);	0.000000	0.85682	D	0.000000	T	0.45975	0.1369	L	0.37561	1.115	0.80722	D	1	B	0.33477	0.413	B	0.38616	0.277	T	0.50303	-0.8844	10	0.72032	D	0.01	-36.7419	17.4806	0.87672	0.0:1.0:0.0:0.0	.	146	Q9BVW5	TIPIN_HUMAN	H	45;146	ENSP00000356682:D45H;ENSP00000261881:D146H	ENSP00000261881:D146H	D	-	1	0	TIPIN	64428491	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.760000	0.74939	2.539000	0.85634	0.555000	0.69702	GAT		0.294	TIPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256897.2	NM_017858		4	51	0	0	0	0.150653	0	4	51				
LURAP1L	286343	broad.mit.edu	37	9	12775994	12775994	+	Missense_Mutation	SNP	G	G	A	rs202014896		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr9:12775994G>A	ENST00000319264.3	+	1	975	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR	NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	97																	GGAGAGGCTAGAAACCAAGCT	0.627																																						ENST00000319264.3																			0											c.(280-282)Gaa>Aaa		leucine rich adaptor protein 1-like							19.0	14.0	16.0					9																	12775994		2197	4295	6492	SO:0001583	missense	286343							g.chr9:12775994G>A	AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"""similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"""		"""chromosome 9 open reading frame 150"""	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.280G>A	9.37:g.12775994G>A	ENSP00000321026:p.Glu94Lys					RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR	p.E94K	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN			1	975	+			97					Q5VZX7|Q8N923|Q8NCG2	Missense_Mutation	SNP	ENST00000319264.3	37	c.280G>A	CCDS6473.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629355	0.87560	.	.	ENSG00000153714	ENST00000319264	T	0.46063	0.88	5.1	5.1	0.69264	.	2.348820	0.02174	N	0.059963	T	0.60379	0.2264	L	0.34521	1.04	0.43632	D	0.996028	D	0.67145	0.996	D	0.73708	0.981	T	0.33599	-0.9862	10	0.44086	T	0.13	.	15.4289	0.75077	0.0:0.0:1.0:0.0	.	97	Q8IV03	CI150_HUMAN	K	94	ENSP00000321026:E94K	ENSP00000321026:E94K	E	+	1	0	C9orf150	12765994	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.377000	0.59562	2.378000	0.81104	0.484000	0.47621	GAA		0.627	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1	NM_203403		5	15	0	0	0	0.307466	0	5	15				
GRPR	2925	broad.mit.edu	37	X	16168712	16168712	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chrX:16168712T>A	ENST00000380289.2	+	2	1096	c.698T>A	c.(697-699)aTt>aAt	p.I233N	RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA|RP11-431J24.2_ENST00000422438.1_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	233					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TACTACTTCATTGCTAAAAAT	0.428																																						ENST00000380289.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25						c.(697-699)aTt>aAt		gastrin-releasing peptide receptor							130.0	109.0	116.0					X																	16168712		2203	4300	6503	SO:0001583	missense	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16168712T>A		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.698T>A	X.37:g.16168712T>A	ENSP00000369643:p.Ile233Asn						p.I233N	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN			2	1096	+	Hepatocellular(33;0.183)		233					B2R910	Missense_Mutation	SNP	ENST00000380289.2	37	c.698T>A	CCDS14174.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.347457	0.82022	.	.	ENSG00000126010	ENST00000380289;ENST00000535371	T	0.58060	0.36	5.63	5.63	0.86233	GPCR, rhodopsin-like superfamily (1);	0.049654	0.85682	D	0.000000	T	0.79799	0.4508	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85534	0.1211	10	0.87932	D	0	-12.0435	13.8962	0.63773	0.0:0.0:0.0:1.0	.	233	P30550	GRPR_HUMAN	N	233;22	ENSP00000369643:I233N	ENSP00000369643:I233N	I	+	2	0	GRPR	16078633	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	1.878000	0.54408	0.486000	0.48141	ATT		0.428	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		4	108	0	0	0	0.150653	0	4	108				
MYCBP2	23077	broad.mit.edu	37	13	77798620	77798620	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr13:77798620G>T	ENST00000544440.2	-	20	2808	c.2791C>A	c.(2791-2793)Cat>Aat	p.H931N	MYCBP2_ENST00000357337.6_Missense_Mutation_p.H931N|MYCBP2_ENST00000407578.2_Missense_Mutation_p.H969N|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGCTGCCCATGCTGCCCATAA	0.348																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(2905-2907)Cat>Aat		MYC binding protein 2, E3 ubiquitin protein ligase							118.0	112.0	114.0					13																	77798620		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77798620G>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.2791C>A	13.37:g.77798620G>T	ENSP00000444596:p.His931Asn					MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.H931N|MYCBP2_ENST00000544440.2_Missense_Mutation_p.H931N	p.H969N	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	20	3171	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	931						Missense_Mutation	SNP	ENST00000544440.2	37	c.2905C>A		.	.	.	.	.	.	.	.	.	.	G	25.0	4.589402	0.86851	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	D;D;D	0.84730	-1.89;-1.89;-1.89	5.61	5.61	0.85477	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.88716	0.6512	L	0.31664	0.95	0.80722	D	1	P	0.49559	0.925	D	0.67900	0.954	D	0.89201	0.3557	10	0.59425	D	0.04	.	19.6419	0.95762	0.0:0.0:1.0:0.0	.	931	O75592	MYCB2_HUMAN	N	931;969;931	ENSP00000349892:H931N;ENSP00000384288:H969N;ENSP00000444596:H931N	ENSP00000349892:H931N	H	-	1	0	MYCBP2	76696621	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.474000	0.97718	2.640000	0.89533	0.655000	0.94253	CAT		0.348	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		45	95	1	0	2.01872e-29	0.870114	2.50145e-29	45	95				
RICTOR	253260	broad.mit.edu	37	5	38945658	38945658	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr5:38945658C>G	ENST00000357387.3	-	34	4598	c.4568G>C	c.(4567-4569)tGt>tCt	p.C1523S	RICTOR_ENST00000296782.5_Missense_Mutation_p.C1547S	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AATACAGACACAATAAAGGCA	0.403																																						ENST00000357387.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(4567-4569)tGt>tCt		RPTOR independent companion of MTOR, complex 2							161.0	145.0	151.0					5																	38945658		2203	4300	6503	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38945658C>G		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.4568G>C	5.37:g.38945658C>G	ENSP00000349959:p.Cys1523Ser					RICTOR_ENST00000296782.5_Missense_Mutation_p.C1547S	p.C1523S	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN			34	4598	-	all_lung(31;0.000396)		1523						Missense_Mutation	SNP	ENST00000357387.3	37	c.4568G>C	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986732	0.93106	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.66280	-0.15;-0.2	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.79281	0.4419	M	0.68593	2.085	0.80722	D	1	D;D	0.61080	0.989;0.989	D;D	0.75020	0.985;0.985	T	0.79478	-0.1787	10	0.87932	D	0	-13.4599	20.3242	0.98691	0.0:1.0:0.0:0.0	.	1523;1547	Q6R327;Q6R327-3	RICTR_HUMAN;.	S	1523;1547	ENSP00000349959:C1523S;ENSP00000296782:C1547S	ENSP00000296782:C1547S	C	-	2	0	RICTOR	38981415	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.903000	0.75703	2.882000	0.98803	0.655000	0.94253	TGT		0.403	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		51	128	0	0	0	0.870114	0	51	128				
TACC2	10579	broad.mit.edu	37	10	123984267	123984267	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr10:123984267A>G	ENST00000369005.1	+	12	7913	c.7573A>G	c.(7573-7575)Att>Gtt	p.I2525V	TACC2_ENST00000515273.1_Missense_Mutation_p.I2529V|TACC2_ENST00000360561.3_Missense_Mutation_p.I603V|TACC2_ENST00000358010.1_Missense_Mutation_p.I671V|TACC2_ENST00000515603.1_Missense_Mutation_p.I2480V|TACC2_ENST00000369001.1_Missense_Mutation_p.I229V|TACC2_ENST00000369004.3_Missense_Mutation_p.I615V|TACC2_ENST00000368999.1_Missense_Mutation_p.I615V|TACC2_ENST00000513429.1_Missense_Mutation_p.I671V|TACC2_ENST00000260733.3_Missense_Mutation_p.I603V|TACC2_ENST00000334433.3_Missense_Mutation_p.I2525V|TACC2_ENST00000369000.1_Missense_Mutation_p.I225V|TACC2_ENST00000453444.2_Missense_Mutation_p.I2529V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2525					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTCCTATGAAATTGAATATAT	0.443																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(7573-7575)Att>Gtt		transforming, acidic coiled-coil containing protein 2							132.0	153.0	146.0					10																	123984267		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123984267A>G	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7573A>G	10.37:g.123984267A>G	ENSP00000358001:p.Ile2525Val					TACC2_ENST00000515273.1_Missense_Mutation_p.I2529V|TACC2_ENST00000453444.2_Missense_Mutation_p.I2529V|TACC2_ENST00000369004.3_Missense_Mutation_p.I615V|TACC2_ENST00000369001.1_Missense_Mutation_p.I229V|TACC2_ENST00000260733.3_Missense_Mutation_p.I603V|TACC2_ENST00000334433.3_Missense_Mutation_p.I2525V|TACC2_ENST00000515603.1_Missense_Mutation_p.I2480V|TACC2_ENST00000369000.1_Missense_Mutation_p.I225V|TACC2_ENST00000360561.3_Missense_Mutation_p.I603V|TACC2_ENST00000358010.1_Missense_Mutation_p.I671V|TACC2_ENST00000368999.1_Missense_Mutation_p.I615V|TACC2_ENST00000513429.1_Missense_Mutation_p.I671V	p.I2525V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			12	7913	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2525					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.7573A>G	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.277758	0.80692	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000496913;ENST00000508411	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.27256	3.56;3.19;3.6;3.53;3.56;3.19;3.6;1.68;1.68;3.03;2.99;2.94;3.06;2.65;1.87	5.5	5.5	0.81552	.	0.000000	0.37393	N	0.002117	T	0.44603	0.1301	L	0.53249	1.67	0.45676	D	0.998595	D;D;P;D;D;D;D;D;D;D	0.71674	0.998;0.983;0.943;0.992;0.983;0.995;0.99;0.99;0.99;0.992	D;D;D;D;D;D;D;D;D;D	0.81914	0.995;0.977;0.946;0.99;0.977;0.99;0.99;0.99;0.99;0.992	T	0.19031	-1.0318	10	0.20046	T	0.44	-4.5936	15.6011	0.76626	1.0:0.0:0.0:0.0	.	620;2529;615;2480;2529;603;603;225;671;2525	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;.;TACC2_HUMAN	V	2525;671;2529;2480;2525;671;2529;2515;229;225;603;615;615;603;620;260;136	ENSP00000358001:I2525V;ENSP00000425062:I671V;ENSP00000424467:I2529V;ENSP00000427618:I2480V;ENSP00000334280:I2525V;ENSP00000350701:I671V;ENSP00000395048:I2529V;ENSP00000357997:I229V;ENSP00000357996:I225V;ENSP00000353763:I603V;ENSP00000357995:I615V;ENSP00000422815:I615V;ENSP00000260733:I603V;ENSP00000420967:I620V;ENSP00000422725:I260V	ENSP00000260733:I603V	I	+	1	0	TACC2	123974257	1.000000	0.71417	0.990000	0.47175	0.993000	0.82548	7.603000	0.82811	2.078000	0.62432	0.533000	0.62120	ATT		0.443	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			24	364	0	0	0	0.639603	0	24	364				
ADAM11	4185	broad.mit.edu	37	17	42850678	42850678	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:42850678C>T	ENST00000200557.6	+	11	1044	c.875C>T	c.(874-876)aCa>aTa	p.T292I	ADAM11_ENST00000535346.1_Missense_Mutation_p.T92I	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	292	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GCCATGGAAACATGGGCAGAT	0.612																																						ENST00000200557.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(874-876)aCa>aTa		ADAM metallopeptidase domain 11							130.0	116.0	121.0					17																	42850678		2203	4300	6503	SO:0001583	missense	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42850678C>T	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.875C>T	17.37:g.42850678C>T	ENSP00000200557:p.Thr292Ile					ADAM11_ENST00000535346.1_Missense_Mutation_p.T92I	p.T292I	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN			11	1044	+		Prostate(33;0.0959)	292			Peptidase M12B.		Q14808|Q14809|Q14810	Missense_Mutation	SNP	ENST00000200557.6	37	c.875C>T	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803121	0.50315	.	.	ENSG00000073670	ENST00000200557;ENST00000535346;ENST00000355638	T;T	0.57273	0.41;0.41	4.77	4.77	0.60923	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.48750	0.1517	N	0.08118	0	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.972;1.0	T	0.38714	-0.9648	10	0.02654	T	1	.	16.7331	0.85440	0.0:1.0:0.0:0.0	.	92;292	B4DKD2;O75078	.;ADA11_HUMAN	I	292;92;192	ENSP00000200557:T292I;ENSP00000443773:T92I	ENSP00000200557:T292I	T	+	2	0	ADAM11	40206204	1.000000	0.71417	0.993000	0.49108	0.011000	0.07611	7.630000	0.83225	2.478000	0.83669	0.561000	0.74099	ACA		0.612	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390		78	143	0	0	0	0.870114	0	78	143				
IQGAP3	128239	broad.mit.edu	37	1	156509711	156509711	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:156509711G>C	ENST00000361170.2	-	24	2821	c.2811C>G	c.(2809-2811)gaC>gaG	p.D937E	IQGAP3_ENST00000498755.1_5'Flank	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	937					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTTCTGCTTGTCCAGAACCA	0.498																																						ENST00000361170.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(2809-2811)gaC>gaG		IQ motif containing GTPase activating protein 3							192.0	175.0	181.0					1																	156509711		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156509711G>C	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.2811C>G	1.37:g.156509711G>C	ENSP00000354451:p.Asp937Glu						p.D937E	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			24	2821	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		937					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.2811C>G	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187233	0.38609	.	.	ENSG00000183856	ENST00000361170	T	0.02472	4.28	4.83	2.96	0.34315	.	0.056365	0.64402	D	0.000001	T	0.02418	0.0074	N	0.25647	0.755	0.38982	D	0.958972	D	0.64830	0.994	D	0.72625	0.978	T	0.59408	-0.7460	10	0.32370	T	0.25	-27.326	6.716	0.23304	0.2858:0.0:0.7142:0.0	.	937	Q86VI3	IQGA3_HUMAN	E	937	ENSP00000354451:D937E	ENSP00000354451:D937E	D	-	3	2	IQGAP3	154776335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.730000	0.55006	0.628000	0.30357	0.551000	0.68910	GAC		0.498	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		61	97	0	0	0	0.870114	0	61	97				
DYNC1H1	1778	broad.mit.edu	37	14	102505823	102505823	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr14:102505823C>T	ENST00000360184.4	+	61	11699	c.11535C>T	c.(11533-11535)aaC>aaT	p.N3845N	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3845					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGAACCCGAACCTGAAGGGTG	0.542																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(11533-11535)aaC>aaT		dynein, cytoplasmic 1, heavy chain 1							103.0	94.0	97.0					14																	102505823		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102505823C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.11535C>T	14.37:g.102505823C>T						RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	p.N3845N	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			61	11699	+			3845					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.11535C>T	CCDS9966.1																																																																																				0.542	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		5	126	0	0	0	0.184627	0	5	126				
TCOF1	6949	broad.mit.edu	37	5	149769510	149769510	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr5:149769510G>T	ENST00000504761.2	+	19	3107	c.3107G>T	c.(3106-3108)aGc>aTc	p.S1036I	TCOF1_ENST00000439160.2_Missense_Mutation_p.S1036I|TCOF1_ENST00000513346.1_Missense_Mutation_p.S1073I|TCOF1_ENST00000451292.1_Missense_Mutation_p.S1073I|TCOF1_ENST00000377797.3_Missense_Mutation_p.S1036I|TCOF1_ENST00000445265.2_Missense_Mutation_p.S959I|TCOF1_ENST00000323668.7_Missense_Mutation_p.S959I			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1036					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCAAAGCCAGCATGGCTGGG	0.582																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(3217-3219)aGc>aTc		Treacher Collins-Franceschetti syndrome 1							59.0	55.0	57.0					5																	149769510		2203	4300	6503	SO:0001583	missense	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149769510G>T		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3107G>T	5.37:g.149769510G>T	ENSP00000421655:p.Ser1036Ile					TCOF1_ENST00000323668.7_Missense_Mutation_p.S959I|TCOF1_ENST00000504761.2_Missense_Mutation_p.S1036I|TCOF1_ENST00000445265.2_Missense_Mutation_p.S959I|TCOF1_ENST00000513346.1_Missense_Mutation_p.S1073I|TCOF1_ENST00000439160.2_Missense_Mutation_p.S1036I|TCOF1_ENST00000377797.3_Missense_Mutation_p.S1036I	p.S1073I			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		20	3326	+		all_hematologic(541;0.224)	1036					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	c.3218G>T	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419195	0.25552	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T	0.76578	-0.98;-0.96;-0.96;-0.96;-0.62;-1.03;-0.96;-0.95	2.22	1.33	0.21861	.	.	.	.	.	T	0.69744	0.3145	L	0.48642	1.525	0.09310	N	1	P;P;P;D;P	0.54772	0.902;0.902;0.902;0.968;0.902	P;P;P;P;P	0.44811	0.461;0.461;0.461;0.452;0.461	T	0.61053	-0.7140	9	0.72032	D	0.01	.	4.989	0.14205	0.1799:0.0:0.8201:0.0	.	1036;959;1036;1036;959	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;TCOF_HUMAN;.	I	1073;1036;959;959;1036;1036;1036;1073	ENSP00000400939:S1073I;ENSP00000367028:S1036I;ENSP00000409944:S959I;ENSP00000325223:S959I;ENSP00000406888:S1036I;ENSP00000390717:S1036I;ENSP00000421655:S1036I;ENSP00000427484:S1073I	ENSP00000325223:S959I	S	+	2	0	TCOF1	149749703	0.012000	0.17670	0.035000	0.18076	0.007000	0.05969	0.692000	0.25482	0.486000	0.27676	-0.157000	0.13467	AGC		0.582	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		28	39	1	0	5.45727e-16	0.729181	6.4137e-16	28	39				
PRKDC	5591	broad.mit.edu	37	8	48840368	48840368	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr8:48840368A>G	ENST00000314191.2	-	20	2278	c.2222T>C	c.(2221-2223)aTt>aCt	p.I741T	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.I741T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	741					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ATCGAGTTCAATGATGTTGTG	0.448								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(2221-2223)aTt>aCt	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							125.0	131.0	129.0					8																	48840368		2024	4172	6196	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48840368A>G		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.2222T>C	8.37:g.48840368A>G	ENSP00000313420:p.Ile741Thr					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.I741T	p.I741T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			20	2278	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	741					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.2222T>C		.	.	.	.	.	.	.	.	.	.	A	16.46	3.129763	0.56721	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02863	4.2;4.13	5.35	5.35	0.76521	Armadillo-type fold (1);	0.225114	0.37809	N	0.001933	T	0.12178	0.0296	.	.	.	0.47584	D	0.999462	D;D;D	0.59357	0.985;0.975;0.975	P;P;P	0.59171	0.853;0.717;0.717	T	0.00200	-1.1927	9	0.87932	D	0	.	15.6202	0.76799	1.0:0.0:0.0:0.0	.	741;741;741	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	T	741	ENSP00000313420:I741T;ENSP00000345182:I741T	ENSP00000313420:I741T	I	-	2	0	PRKDC	49002921	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	8.655000	0.91098	2.145000	0.66743	0.460000	0.39030	ATT		0.448	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		25	37	0	0	0	0.667858	0	25	37				
CDH7	1005	broad.mit.edu	37	18	63547747	63547747	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr18:63547747G>T	ENST00000397968.2	+	12	2401	c.1975G>T	c.(1975-1977)Gga>Tga	p.G659*	CDH7_ENST00000323011.3_Nonsense_Mutation_p.G659*	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	659					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CGAGGGCGGGGGAGAGGAGGA	0.478																																						ENST00000397968.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(1975-1977)Gga>Tga		cadherin 7, type 2							71.0	73.0	72.0					18																	63547747		2203	4300	6503	SO:0001587	stop_gained	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63547747G>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1975G>T	18.37:g.63547747G>T	ENSP00000381058:p.Gly659*					CDH7_ENST00000323011.3_Nonsense_Mutation_p.G659*	p.G659*	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN			12	2401	+		Esophageal squamous(42;0.129)	659					Q9H157	Nonsense_Mutation	SNP	ENST00000397968.2	37	c.1975G>T	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	38	6.816877	0.97861	.	.	ENSG00000081138	ENST00000323011;ENST00000397966;ENST00000397968	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6378	0.95744	0.0:0.0:1.0:0.0	.	.	.	.	X	659	.	ENSP00000319166:G659X	G	+	1	0	CDH7	61698727	1.000000	0.71417	0.647000	0.29507	0.077000	0.17291	9.869000	0.99810	2.631000	0.89168	0.655000	0.94253	GGA		0.478	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		8	104	1	0	1.06961e-07	0.278610	1.20729e-07	8	104				
MUC16	94025	broad.mit.edu	37	19	9046473	9046473	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr19:9046473C>T	ENST00000397910.4	-	5	35361	c.35158G>A	c.(35158-35160)Gcc>Acc	p.A11720T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11722	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGACTGGTGGCCATTACAGGT	0.517																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(35158-35160)Gcc>Acc		mucin 16, cell surface associated							125.0	119.0	121.0					19																	9046473		1983	4158	6141	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046473C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35158G>A	19.37:g.9046473C>T	ENSP00000381008:p.Ala11720Thr						p.A11720T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	35361	-			11722			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.35158G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	9.727	1.161141	0.21538	.	.	ENSG00000181143	ENST00000397910	T	0.03272	3.99	3.18	3.18	0.36537	.	.	.	.	.	T	0.09113	0.0225	L	0.54323	1.7	.	.	.	D	0.58268	0.982	P	0.57425	0.82	T	0.04825	-1.0924	8	0.87932	D	0	.	6.3844	0.21552	0.0:0.8679:0.0:0.1321	.	11720	B5ME49	.	T	11720	ENSP00000381008:A11720T	ENSP00000381008:A11720T	A	-	1	0	MUC16	8907473	0.000000	0.05858	0.003000	0.11579	0.061000	0.15899	-0.452000	0.06787	2.100000	0.63781	0.556000	0.70494	GCC		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	143	0	0	0	0.150653	0	4	143				
MT-ND6	4541	broad.mit.edu	37	M	14556	14556	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chrM:14556A>G	ENST00000361681.2	-	1	117	c.118T>C	c.(118-120)Tgt>Cgt	p.C40R	MT-TP_ENST00000387461.2_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA			P03923	NU6M_HUMAN	mitochondrially encoded NADH dehydrogenase 6	40					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						AATAATAACACACCCGACCAC	0.393																																						ENST00000361681.2																			0				breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						c.(118-120)Tgt>Cgt		mitochondrially encoded NADH dehydrogenase 6																																				SO:0001583	missense	4541							g.chrM:14556A>G			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198695	ENSG00000198695	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7462	protein-coding gene	gene with protein product	"""complex I ND6 subunit"", ""NADH-ubiquinone oxidoreductase chain 6"""	516006	"""NADH dehydrogenase 6"""	MTND6			Standard			Approved	NAD6, ND6		P03923		ENST00000361681.2:c.118T>C	M.37:g.14556A>G	ENSP00000354665:p.Cys40Arg						p.C40R							1	117	-								Q34774|Q8HG30	Missense_Mutation	SNP	ENST00000361681.2	37	c.118T>C																																																																																					0.393	MT-ND6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024037		33	3	0	0	0	0.788014	0	33	3				
KCNV2	169522	broad.mit.edu	37	9	2718621	2718621	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr9:2718621C>T	ENST00000382082.3	+	1	1120	c.882C>T	c.(880-882)ggC>ggT	p.G294G		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	294					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		AGGGCGAGGGCGGCCCAGACC	0.682																																						ENST00000382082.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(880-882)ggC>ggT		potassium channel, subfamily V, member 2							28.0	30.0	29.0					9																	2718621		2200	4293	6493	SO:0001819	synonymous_variant	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718621C>T	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.882C>T	9.37:g.2718621C>T							p.G294G	NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	1120	+			294					Q5T6X0	Silent	SNP	ENST00000382082.3	37	c.882C>T	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.525113	0.00959	.	.	ENSG00000168263	ENST00000423608	.	.	.	4.93	-0.823	0.10815	.	.	.	.	.	T	0.35740	0.0942	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.38200	-0.9672	5	0.72032	D	0.01	.	4.4691	0.11703	0.1117:0.4057:0.3593:0.1233	.	.	.	.	W	245	.	ENSP00000409635:R245W	R	+	1	2	KCNV2	2708621	0.002000	0.14202	0.042000	0.18584	0.071000	0.16799	0.016000	0.13377	-0.149000	0.11215	0.563000	0.77884	CGG		0.682	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		4	55	0	0	0	0.184627	0	4	55				
NBPF10	100132406	broad.mit.edu	37	1	145327548	145327548	+	Missense_Mutation	SNP	A	A	G	rs202019968		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:145327548A>G	ENST00000342960.5	+	32	4140	c.4105A>G	c.(4105-4107)Aat>Gat	p.N1369D	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	712						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGACTCACTGAATAGATGTTA	0.473																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(4105-4107)Aat>Gat		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145327548A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.4105A>G	1.37:g.145327548A>G	ENSP00000345684:p.Asn1369Asp					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.N1369D	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	32	4140	+	all_hematologic(923;0.032)		1369					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.4105A>G	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.181510	0.00308	.	.	ENSG00000163386	ENST00000342960	T	0.03301	3.98	1.5	-0.755	0.11061	.	.	.	.	.	T	0.00210	0.0006	N	0.00179	-1.91	0.09310	N	1	.	.	.	.	.	.	T	0.40608	-0.9554	7	0.02654	T	1	.	5.1791	0.15150	0.6356:0.0:0.3644:0.0	.	.	.	.	D	1369	ENSP00000345684:N1369D	ENSP00000345684:N1369D	N	+	1	0	NBPF10	144038905	0.003000	0.15002	0.004000	0.12327	0.050000	0.14768	-0.536000	0.06135	-0.488000	0.06726	-1.353000	0.01230	AAT		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		6	118	0	0	0	0.217242	0	6	118				
FOXRED2	80020	broad.mit.edu	37	22	36892016	36892016	+	Missense_Mutation	SNP	G	G	T	rs376453305		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr22:36892016G>T	ENST00000397224.4	-	7	1715	c.1622C>A	c.(1621-1623)aCc>aAc	p.T541N	FOXRED2_ENST00000366463.3_Missense_Mutation_p.T93N|FOXRED2_ENST00000216187.6_Missense_Mutation_p.T541N|FOXRED2_ENST00000397223.4_Missense_Mutation_p.T541N	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	541					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTGCTCACCGGTGGGGAGGTA	0.542																																						ENST00000397224.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1621-1623)aCc>aAc		FAD-dependent oxidoreductase domain containing 2							96.0	92.0	94.0					22																	36892016		2203	4300	6503	SO:0001583	missense	80020				ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chr22:36892016G>T	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1622C>A	22.37:g.36892016G>T	ENSP00000380401:p.Thr541Asn					FOXRED2_ENST00000397223.4_Missense_Mutation_p.T541N|FOXRED2_ENST00000216187.6_Missense_Mutation_p.T541N|FOXRED2_ENST00000366463.3_Missense_Mutation_p.T93N	p.T541N	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN			7	1715	-			541					B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	ENST00000397224.4	37	c.1622C>A	CCDS13929.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538925	0.65085	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000366463;ENST00000397223	T;T;T;T	0.49432	2.39;2.39;0.78;2.39	5.52	5.52	0.82312	.	0.047591	0.85682	D	0.000000	T	0.50888	0.1642	M	0.61703	1.905	0.80722	D	1	P	0.45902	0.868	B	0.41036	0.346	T	0.56420	-0.7982	10	0.54805	T	0.06	-30.5522	19.4887	0.95040	0.0:0.0:1.0:0.0	.	541	Q8IWF2	FXRD2_HUMAN	N	541;541;93;541	ENSP00000380401:T541N;ENSP00000216187:T541N;ENSP00000382543:T93N;ENSP00000380400:T541N	ENSP00000216187:T541N	T	-	2	0	FOXRED2	35221962	1.000000	0.71417	0.998000	0.56505	0.773000	0.43773	8.714000	0.91412	2.607000	0.88179	0.650000	0.86243	ACC		0.542	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2	NM_024955		91	137	1	0	6.26597e-58	0.870114	7.84967e-58	91	137				
VPS33A	65082	broad.mit.edu	37	12	122723269	122723269	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr12:122723269G>T	ENST00000267199.4	-	10	1279	c.1167C>A	c.(1165-1167)gtC>gtA	p.V389V	RP11-512M8.5_ENST00000535844.1_Silent_p.V350V	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	389					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TGTAATTGTTGACCTGGAAAT	0.383																																						ENST00000267199.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28						c.(1165-1167)gtC>gtA		vacuolar protein sorting 33 homolog A (S. cerevisiae)							139.0	124.0	129.0					12																	122723269		2203	4300	6503	SO:0001819	synonymous_variant	65082				lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr12:122723269G>T	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.1167C>A	12.37:g.122723269G>T						RP11-512M8.5_ENST00000535844.1_Silent_p.V350V	p.V389V	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)	10	1279	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		389					Q547V4|Q9H5Q0	Silent	SNP	ENST00000267199.4	37	c.1167C>A	CCDS9231.1																																																																																				0.383	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2			17	255	1	0	2.23348e-06	0.500413	2.47201e-06	17	255				
MTDH	92140	broad.mit.edu	37	8	98731381	98731381	+	Silent	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr8:98731381T>C	ENST00000336273.3	+	10	1813	c.1485T>C	c.(1483-1485)acT>acC	p.T495T	MTDH_ENST00000519934.1_Silent_p.T439T	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	495					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			CCATAAGCACTAGTGATCCAG	0.413																																						ENST00000336273.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1483-1485)acT>acC		metadherin							84.0	89.0	87.0					8																	98731381		2203	4300	6503	SO:0001819	synonymous_variant	92140				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	g.chr8:98731381T>C	AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1485T>C	8.37:g.98731381T>C						MTDH_ENST00000519934.1_Silent_p.T439T	p.T495T	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.178)		10	1813	+	Breast(36;2.56e-06)		495					Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Silent	SNP	ENST00000336273.3	37	c.1485T>C	CCDS6274.1																																																																																				0.413	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2			85	152	0	0	0	0.870114	0	85	152				
NBPF1	55672	broad.mit.edu	37	1	16907916	16907917	+	Splice_Site	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:16907916_16907917insG	ENST00000430580.2	-	15	2264_2265	c.1377_1378insC	c.(1375-1380)cccagg>cccCagg	p.R460fs	NBPF1_ENST00000432949.1_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	460	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAGTGTTACCTGGGGGCAGATG	0.436																																						ENST00000430580.2																			0											c.e15+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16907916_16907917insG	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.1379+1->C	1.37:g.16907921_16907921dupG							p.PG459_splice	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	15	2264_2265	-			459			NBPF 2.		Q8N4E8|Q9C0H0	Splice_Site	INS	ENST00000430580.2	37	c.1379_splice																																																																																					0.436	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Frame_Shift_Ins	10	845						10	845	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5542-5544)gggfs	p.G1848fs	ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.G176fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.G1465fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.G1631fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1848					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.G1848fs*6(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	3	Insertion - Frameshift(3)	p.G1848fs*6(3)	ovary(2)|endometrium(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5539-5544)ggggggfs		AT rich interactive domain 1A (SWI-like)																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27105930_27105931insG	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5548dupG	1.37:g.27105937_27105937dupG	ENSP00000320485:p.Gly1848fs					ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs	p.GG1847fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	5912_5913	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1847					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	c.5541_5542insG	CCDS285.1																																																																																				0.579	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		17	328						17	328	---	---	---	---
IQCC	55721	broad.mit.edu	37	1	32673442	32673443	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:32673442_32673443insG	ENST00000291358.6	+	5	1181_1182	c.1160_1161insG	c.(1159-1164)ttggggfs	p.LG387fs	RP4-622L5.7_ENST00000373604.4_RNA|DCDC2B_ENST00000409358.1_5'Flank|RP4-622L5.7_ENST00000421616.1_RNA|IQCC_ENST00000537469.1_Frame_Shift_Ins_p.LG467fs	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	387										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATGGTACCTTGGGGGGGCCAG	0.55																																						ENST00000537469.1																			0				endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15						c.(1399-1401)tggfs		IQ motif containing C																																				SO:0001589	frameshift_variant	55721							g.chr1:32673442_32673443insG	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.1167dupG	1.37:g.32673449_32673449dupG	ENSP00000291358:p.Leu387fs					IQCC_ENST00000291358.6_Frame_Shift_Ins_p.W387fs	p.W467fs	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN			5	1447_1448	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	387					F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Frame_Shift_Ins	INS	ENST00000291358.6	37	c.1400_1401insG	CCDS355.1																																																																																				0.550	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		9	239						9	239	---	---	---	---
CSF3R	1441	broad.mit.edu	37	1	36935322	36935323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:36935322_36935323insG	ENST00000373106.1	-	11	1951_1952	c.1404_1405insC	c.(1402-1407)cccagcfs	p.S469fs	CSF3R_ENST00000373103.1_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.S469fs	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	469	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCCA	0.634																																						ENST00000373103.1																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1402-1407)ccgcgcfs		colony stimulating factor 3 receptor (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)																																			SO:0001589	frameshift_variant	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36935322_36935323insG	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1405dupC	1.37:g.36935329_36935329dupG	ENSP00000362198:p.Ser469fs					CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373106.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.R469fs	p.R469fs	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN			11	1951_1952	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	469			Fibronectin type-III 4.			Frame_Shift_Ins	INS	ENST00000373106.1	37	c.1404_1405insC	CCDS413.1																																																																																				0.634	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		13	312						13	312	---	---	---	---
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:42898878_42898879insG	ENST00000372565.3	-	7	1179_1180	c.910_911insC	c.(910-912)caafs	p.Q304fs	ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.Q194fs	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	304						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATGGTTTTTTGGGGGGCTTTG	0.411																																						ENST00000372565.3																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17						c.(910-912)aaafs		zinc finger, MYND-type containing 12																																				SO:0001589	frameshift_variant	84217					intracellular	zinc ion binding	g.chr1:42898878_42898879insG	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.911dupC	1.37:g.42898884_42898884dupG	ENSP00000361646:p.Gln304fs					ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs|ZMYND12_ENST00000475426.1_5'UTR	p.K304fs	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN			7	1179_1180	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	304					Q5VUS6|Q8TC87|Q96M51	Frame_Shift_Ins	INS	ENST00000372565.3	37	c.910_911insC	CCDS467.1																																																																																				0.411	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		8	253						8	253	---	---	---	---
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G	rs371885641		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)cccactfs	p.T118fs	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.T118fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594																																						ENST00000302250.2																			1	Deletion - Frameshift(1)	p.T118fs*43(1)	ovary(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(349-354)ccctatfs		family with sequence similarity 151, member A			,	13,4253		0,13,2120					,	3.2	0.2			92	8,8246		0,8,4119	no	frameshift,intron	ACOT11,FAM151A	NM_176782.2,NM_015547.3	,	0,21,6239	A1A1,A1R,RR		0.0969,0.3047,0.1677	,	,		21,12499				SO:0001589	frameshift_variant	338094					integral to membrane		g.chr1:55081756_55081757insG	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.352dupC	1.37:g.55081763_55081763dupG	ENSP00000306888:p.Thr118fs					FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs|ACOT11_ENST00000371316.3_Intron	p.Y118fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN			3	511_512	-			118					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Frame_Shift_Ins	INS	ENST00000302250.2	37	c.351_352insC	CCDS594.1																																																																																				0.594	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		17	254						17	254	---	---	---	---
USP24	23358	broad.mit.edu	37	1	55551626	55551626	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:55551626delA	ENST00000294383.6	-	56	6753	c.6754delT	c.(6754-6756)tatfs	p.Y2252fs	USP24_ENST00000407756.1_Frame_Shift_Del_p.Y2092fs	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2252					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTATCCTGATAAAACAAGGCA	0.378																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(6754-6756)atfs		ubiquitin specific peptidase 24							130.0	120.0	123.0					1																	55551626		1847	4103	5950	SO:0001589	frameshift_variant	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55551626delA	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.6754delT	1.37:g.55551626delA	ENSP00000294383:p.Tyr2252fs					USP24_ENST00000407756.1_Frame_Shift_Del_p.Y2092fs	p.Y2252fs	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			56	6753	-			2252					Q6ZSY2|Q8N2Y4|Q9NXD1	Frame_Shift_Del	DEL	ENST00000294383.6	37	c.6754delT	CCDS44154.2																																																																																				0.378	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			11	150						11	150	---	---	---	---
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779|rs183693555	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:59812016_59812017insG	ENST00000303721.7	+	4	585_586	c.411_412insG	c.(412-414)gggfs	p.G138fs	FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371218.4_Frame_Shift_Ins_p.G138fs|FGGY_ENST00000371212.1_Intron	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	138					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.5																																						ENST00000371218.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(409-414)gtggggfs		FGGY carbohydrate kinase domain containing																																				SO:0001589	frameshift_variant	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:59812016_59812017insG		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.418dupG	1.37:g.59812023_59812023dupG	ENSP00000305922:p.Gly138fs					FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000474476.1_3'UTR	p.VG137fs	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN			4	595_596	+	all_cancers(7;7.36e-05)		137					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Frame_Shift_Ins	INS	ENST00000303721.7	37	c.411_412insG	CCDS611.2																																																																																				0.500	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		11	290						11	290	---	---	---	---
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)tggfs	p.W170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386																																					GBM(140;473 1857 5172 22066 49719)	ENST00000370383.4																			0				central_nervous_system(1)|large_intestine(3)|lung(8)	12						c.(508-510)gggfs		epoxide hydrolase 4																																				SO:0001589	frameshift_variant	253152					integral to membrane	hydrolase activity	g.chr1:92511121_92511122insG	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.515dupG	1.37:g.92511128_92511128dupG	ENSP00000359410:p.Trp170fs						p.G170fs	NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN			4	606_607	+			170					Q8NCC6	Frame_Shift_Ins	INS	ENST00000370383.4	37	c.508_509insG	CCDS736.1																																																																																				0.386	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		10	283						10	283	---	---	---	---
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C	rs552970171		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)gccfs	p.A352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505																																						ENST00000369732.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(1054-1056)catfs		oviductal glycoprotein 1, 120kDa																																				SO:0001589	frameshift_variant	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111959046_111959047insC	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1055dupG	1.37:g.111959053_111959053dupC	ENSP00000358747:p.Ala352fs					OVGP1_ENST00000540696.1_3'UTR	p.H352fs	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	10	1109_1110	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	352					A0AV19|B9EGE1|Q15841	Frame_Shift_Ins	INS	ENST00000369732.3	37	c.1054_1055insG	CCDS834.1																																																																																				0.505	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		26	492						26	492	---	---	---	---
OLFML3	56944	broad.mit.edu	37	1	114523958	114523959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:114523958_114523959insC	ENST00000320334.4	+	3	862_863	c.788_789insC	c.(787-792)atccccfs	p.IP263fs	OLFML3_ENST00000369551.1_Frame_Shift_Ins_p.IP243fs|OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.IP243fs|OLFML3_ENST00000491700.1_3'UTR	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	263	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGGGCTGATCCCCCCCTACG	0.559																																						ENST00000369551.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(727-729)accfs		olfactomedin-like 3																																				SO:0001589	frameshift_variant	56944				multicellular organismal development	extracellular region		g.chr1:114523958_114523959insC	AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.795dupC	1.37:g.114523965_114523965dupC	ENSP00000322273:p.Ile263fs					OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs|OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs|OLFML3_ENST00000491700.1_3'UTR	p.T243fs			Q9NRN5	OLFL3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1016_1017	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	263			Olfactomedin-like.		Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Frame_Shift_Ins	INS	ENST00000320334.4	37	c.728_729insC	CCDS870.1																																																																																				0.559	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033119.1	NM_020190		9	192						9	192	---	---	---	---
NBPF10	100132406	broad.mit.edu	37	1	145303975	145303976	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:145303975_145303976insC	ENST00000369339.3	+	6	812_813	c.559_560insC	c.(559-561)gccfs	p.A187fs	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Frame_Shift_Ins_p.A187fs|NBPF10_ENST00000342960.5_Frame_Shift_Ins_p.A458fs			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	458	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAAATCATCTGCCCCCAGGTAA	0.431																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1372-1374)cccfs		neuroblastoma breakpoint family, member 10																																				SO:0001589	frameshift_variant	100132406							g.chr1:145303975_145303976insC	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.564dupC	1.37:g.145303980_145303980dupC	ENSP00000358345:p.Ala187fs					RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Frame_Shift_Ins_p.P187fs|NBPF10_ENST00000369339.2_Frame_Shift_Ins_p.P187fs	p.P458fs	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	9	1407_1408	+	all_hematologic(923;0.032)		458					Q5RHC0|Q9NWN6	Frame_Shift_Ins	INS	ENST00000369339.3	37	c.1372_1373insC																																																																																					0.431	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		7	1003						7	1003	---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1627-1629)cccfs	p.P543fs	ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.P400fs|ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.P412fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	543					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1624-1629)gaccccfs		integrin, alpha 10																																				SO:0001589	frameshift_variant	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145534121_145534122insC	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1633dupC	1.37:g.145534128_145534128dupC	ENSP00000358310:p.Pro543fs					ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs	p.DP542fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			14	1801_1802	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		542					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Frame_Shift_Ins	INS	ENST00000369304.3	37	c.1626_1627insC	CCDS918.1																																																																																				0.554	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		18	428						18	428	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1257)tgccccfs	p.CP418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.CP383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.5																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1252-1254)tccfs		protein inhibitor of activated STAT, 3																																				SO:0001589	frameshift_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145584022_145584023insC	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1259dupC	1.37:g.145584028_145584028dupC	ENSP00000376765:p.Cys418fs					PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	p.S418fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN			10	1343_1344	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		418					Q9UFI3	Frame_Shift_Ins	INS	ENST00000393045.2	37	c.1253_1254insC	CCDS920.2																																																																																				0.500	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		12	723						12	723	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145585532	145585533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:145585532_145585533insG	ENST00000393045.2	+	14	1887_1888	c.1797_1798insG	c.(1798-1800)gggfs	p.G600fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.G565fs|NUDT17_ENST00000444015.2_5'Flank	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	600					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGTGGCCCCTGGGGGGGCCTT	0.663																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1795-1800)ccggggfs		protein inhibitor of activated STAT, 3				11,4249		0,11,2119						4.1	1.0			46	12,8224		0,12,4106	no	frameshift	PIAS3	NM_006099.3		0,23,6225	A1A1,A1R,RR		0.1457,0.2582,0.1841				23,12473				SO:0001589	frameshift_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145585532_145585533insG	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1804dupG	1.37:g.145585539_145585539dupG	ENSP00000376765:p.Gly600fs					PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.PG564fs	p.PG599fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN			14	1887_1888	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		599					Q9UFI3	Frame_Shift_Ins	INS	ENST00000393045.2	37	c.1797_1798insG	CCDS920.2																																																																																				0.663	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		9	205						9	205	---	---	---	---
BCL9	607	broad.mit.edu	37	1	147091500	147091501	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:147091500_147091501insC	ENST00000234739.3	+	8	2279_2280	c.1539_1540insC	c.(1540-1542)cccfs	p.P514fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	514	Poly-Pro.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TGGTCCGAGGACCCCCCCCTCC	0.579			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1537-1542)ggccccfs		B-cell CLL/lymphoma 9																																				SO:0001589	frameshift_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091500_147091501insC	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1547dupC	1.37:g.147091508_147091508dupC	ENSP00000234739:p.Pro514fs						p.GP513fs	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	2279_2280	+	all_hematologic(923;0.115)		513			Pro-rich.		Q5T489	Frame_Shift_Ins	INS	ENST00000234739.3	37	c.1539_1540insC	CCDS30833.1																																																																																				0.579	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		18	296						18	296	---	---	---	---
NBPF20	100288142	broad.mit.edu	37	1	148342471	148342472	+	Splice_Site	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:148342471_148342472insG	ENST00000369202.1	-	5	761_762	c.564_565insC	c.(562-567)cccagg>cccCagg	p.R189fs	NBPF20_ENST00000414710.2_Splice_Site_p.R189fs			Q3BBV1	NBPFK_HUMAN	neuroblastoma breakpoint family, member 20	189	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.P188P(1)		breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						CAGTGTTACCTGGGGGCAGATG	0.431																																						ENST00000369202.1																			1	Substitution - coding silent(1)	p.P188P(1)	lung(1)	breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						c.e5+1		neuroblastoma breakpoint family, member 20																																				SO:0001630	splice_region_variant	100288142							g.chr1:148342471_148342472insG		CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832			"""neuroblastoma breakpoint family"""	32000	protein-coding gene	gene with protein product		614007				16079250	Standard	NM_001278267		Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.566+1->C	1.37:g.148342476_148342476dupG						NBPF20_ENST00000414710.2_Splice_Site_p.PG188_splice	p.PG188_splice							5	761_762	-									Splice_Site	INS	ENST00000369202.1	37	c.566_splice																																																																																					0.431	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000100689.2		Frame_Shift_Ins	7	874						7	874	---	---	---	---
ADAMTSL4	54507	broad.mit.edu	37	1	150530505	150530506	+	Frame_Shift_Ins	INS	-	-	G	rs149280379		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:150530505_150530506insG	ENST00000369038.2	+	12	2463_2464	c.2262_2263insG	c.(2263-2265)gggfs	p.G755fs	ADAMTSL4_ENST00000369039.5_Frame_Shift_Ins_p.G778fs|ADAMTSL4_ENST00000369041.5_Frame_Shift_Ins_p.G755fs|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Frame_Shift_Ins_p.G755fs			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	755	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)	p.F754L(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGCAGGAATTTGGGGGGGGTGG	0.693																																						ENST00000271643.4																			1	Substitution - Missense(1)	p.F754L(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(2260-2265)ttggggfs		ADAMTS-like 4																																				SO:0001589	frameshift_variant	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150530505_150530506insG	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2270dupG	1.37:g.150530513_150530513dupG	ENSP00000358034:p.Gly755fs					ADAMTSL4_ENST00000369038.2_Frame_Shift_Ins_p.LG754fs|ADAMTSL4_ENST00000369041.5_Frame_Shift_Ins_p.LG754fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Ins_p.LG777fs	p.LG754fs	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		14	2498_2499	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		754			TSP type-1 2.		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Frame_Shift_Ins	INS	ENST00000369038.2	37	c.2262_2263insG	CCDS955.1																																																																																				0.693	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		11	115						11	115	---	---	---	---
SETDB1	9869	broad.mit.edu	37	1	150933381	150933382	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:150933381_150933382insC	ENST00000271640.5	+	16	3033_3034	c.2843_2844insC	c.(2842-2847)caccccfs	p.HP948fs	SETDB1_ENST00000368969.4_Frame_Shift_Ins_p.HP948fs	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	948	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AAGGACTCCCACCCCCCAGATC	0.574																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2842-2844)cccfs		SET domain, bifurcated 1																																				SO:0001589	frameshift_variant	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150933381_150933382insC	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.2849dupC	1.37:g.150933387_150933387dupC	ENSP00000271640:p.His948fs					SETDB1_ENST00000368969.4_Frame_Shift_Ins_p.P948fs	p.P948fs	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		16	3033_3034	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		948			SET.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Frame_Shift_Ins	INS	ENST00000271640.5	37	c.2843_2844insC	CCDS44217.1																																																																																				0.574	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			8	613						8	613	---	---	---	---
SELENBP1	8991	broad.mit.edu	37	1	151338280	151338281	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:151338280_151338281insG	ENST00000368868.5	-	8	976_977	c.885_886insC	c.(883-888)cccaagfs	p.K296fs	SELENBP1_ENST00000435071.1_Frame_Shift_Ins_p.K232fs|SELENBP1_ENST00000473693.1_5'Flank|SELENBP1_ENST00000447402.3_Frame_Shift_Ins_p.K234fs|SELENBP1_ENST00000426705.2_Frame_Shift_Ins_p.K338fs	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	296					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTCACTTTCTTGGGGGGCACCT	0.545																																						ENST00000435071.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20						c.(691-696)ccagaafs		selenium binding protein 1																																				SO:0001589	frameshift_variant	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151338280_151338281insG	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.886dupC	1.37:g.151338286_151338286dupG	ENSP00000357861:p.Lys296fs					SELENBP1_ENST00000368868.5_Frame_Shift_Ins_p.E296fs|SELENBP1_ENST00000447402.3_Frame_Shift_Ins_p.E234fs|SELENBP1_ENST00000426705.2_Frame_Shift_Ins_p.E338fs	p.E232fs			Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		8	1155_1156	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		296					A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Frame_Shift_Ins	INS	ENST00000368868.5	37	c.693_694insC	CCDS995.1																																																																																				0.545	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			7	514						7	514	---	---	---	---
SPRR2F	6705	broad.mit.edu	37	1	153085120	153085121	+	Frame_Shift_Ins	INS	-	-	G	rs199815403|rs377652411		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:153085120_153085121insG	ENST00000468739.1	-	2	149_150	c.89_90insC	c.(88-90)ccgfs	p.P30fs	SPRR2B_ENST00000368752.4_Intron	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	small proline-rich protein 2F	30	3 X 9 AA tandem repeats of [PS]-K-C-P- [EQ]-[PS]-C-P-P.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGGCACTTCGGGGGTGGACA	0.624																																						ENST00000468739.1																			0				large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4						c.(88-90)caafs		small proline-rich protein 2F																																				SO:0001589	frameshift_variant	6705				keratinization	cornified envelope|cytoplasm		g.chr1:153085120_153085121insG	AF333956	CCDS30867.1	1q21-q22	2008-02-05			ENSG00000244094	ENSG00000244094			11266	protein-coding gene	gene with protein product						8325635, 11279051	Standard	NM_001014450		Approved		uc001fbi.3	Q96RM1	OTTHUMG00000014398	ENST00000468739.1:c.90dupC	1.37:g.153085125_153085125dupG	ENSP00000418193:p.Pro30fs					SPRR2B_ENST00000368752.4_Intron	p.Q30fs	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	149_150	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		30			3 X 9 AA tandem repeats of [PS]-K-C-P- [EQ]-[PS]-C-P-P.		Q5T9T3	Frame_Shift_Ins	INS	ENST00000468739.1	37	c.89_90insC	CCDS30867.1																																																																																				0.624	SPRR2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040056.1			8	907						8	907	---	---	---	---
PGLYRP4	57115	broad.mit.edu	37	1	153317810	153317811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:153317810_153317811insC	ENST00000359650.5	-	4	251_252	c.187_188insG	c.(187-189)gcafs	p.A63fs	PGLYRP4_ENST00000368739.3_Frame_Shift_Ins_p.A59fs|PGLYRP4_ENST00000490266.1_5'UTR	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	63					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACAGCTTCTGCCCCCCATGCC	0.589																																						ENST00000368739.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.(175-177)agafs		peptidoglycan recognition protein 4																																				SO:0001589	frameshift_variant	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153317810_153317811insC	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.188dupG	1.37:g.153317816_153317816dupC	ENSP00000352672:p.Ala63fs					PGLYRP4_ENST00000490266.1_5'UTR|PGLYRP4_ENST00000359650.5_Frame_Shift_Ins_p.R63fs	p.R59fs			Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	533_534	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		63					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Frame_Shift_Ins	INS	ENST00000359650.5	37	c.175_176insG	CCDS30871.1																																																																																				0.589	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		7	943						7	943	---	---	---	---
TMEM79	84283	broad.mit.edu	37	1	156255497	156255498	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:156255497_156255498insC	ENST00000405535.2	+	2	651_652	c.480_481insC	c.(481-483)cccfs	p.P161fs	TMEM79_ENST00000295694.5_Frame_Shift_Ins_p.P161fs|TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000357501.2_Intron|SMG5_ENST00000361813.5_5'Flank|SMG5_ENST00000368267.5_5'Flank	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	161					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)		p.R163fs*17(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					GAACCTTCATGCCCCCCCGGGT	0.658																																						ENST00000405535.2																			1	Deletion - Frameshift(1)	p.R163fs*17(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21						c.(478-483)atccccfs		transmembrane protein 79																																				SO:0001589	frameshift_variant	84283					integral to membrane		g.chr1:156255497_156255498insC	BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"""mattrin"""	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.487dupC	1.37:g.156255504_156255504dupC	ENSP00000384748:p.Pro161fs					TMEM79_ENST00000357501.2_Intron|TMEM79_ENST00000295694.5_Frame_Shift_Ins_p.IP160fs|TMEM79_ENST00000495881.1_3'UTR	p.IP160fs	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN			2	651_652	+	Hepatocellular(266;0.158)		160					B2RE22|D3DVB8	Frame_Shift_Ins	INS	ENST00000405535.2	37	c.480_481insC	CCDS1138.1																																																																																				0.658	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	NM_032323		8	57						8	57	---	---	---	---
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:156708444_156708445insG	ENST00000361531.2	-	2	188_189	c.52_53insC	c.(52-54)catfs	p.H18fs	MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.H18fs|MRPL24_ENST00000478899.1_5'Flank			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	18					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATAGCGGTAATGGGGGGGCAGA	0.574																																						ENST00000361531.2																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(52-54)ttafs		mitochondrial ribosomal protein L24																																				SO:0001589	frameshift_variant	79590				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr1:156708444_156708445insG	AB051341	CCDS1155.1	1q23.1	2012-11-14			ENSG00000143314	ENSG00000143314		"""Mitochondrial ribosomal proteins / large subunits"""	14037	protein-coding gene	gene with protein product		611836					Standard	NM_145729		Approved	MRP-L18	uc001fpx.1	Q96A35	OTTHUMG00000041296	ENST00000361531.2:c.53dupC	1.37:g.156708451_156708451dupG	ENSP00000354525:p.His18fs					MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.L18fs	p.L18fs			Q96A35	RM24_HUMAN			2	188_189	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		18					D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3	Frame_Shift_Ins	INS	ENST00000361531.2	37	c.52_53insC	CCDS1155.1																																																																																				0.574	MRPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098955.1	NM_145729		7	223						7	223	---	---	---	---
IGSF9	57549	broad.mit.edu	37	1	159904586	159904587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:159904586_159904587insG	ENST00000368094.1	-	7	896_897	c.699_700insC	c.(697-702)cccaagfs	p.K234fs	IGSF9_ENST00000493195.1_5'Flank|IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.K234fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	234	Ig-like 3.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGCTGTTCTTGGGGGGCACCA	0.569																																						ENST00000368094.1																			0				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(697-702)ccagaafs		immunoglobulin superfamily, member 9																																				SO:0001589	frameshift_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159904586_159904587insG	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.700dupC	1.37:g.159904592_159904592dupG	ENSP00000357073:p.Lys234fs					IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.E234fs	p.E234fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	896_897	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	234			Ig-like 3.			Frame_Shift_Ins	INS	ENST00000368094.1	37	c.699_700insC	CCDS44254.1																																																																																				0.569	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		13	499						13	499	---	---	---	---
ADAMTS4	9507	broad.mit.edu	37	1	161167945	161167946	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:161167945_161167946insC	ENST00000367996.5	-	1	900_901	c.472_473insG	c.(472-474)gctfs	p.A158fs	ADAMTS4_ENST00000367995.3_Frame_Shift_Ins_p.A158fs|ADAMTS4_ENST00000478394.1_5'Flank|NDUFS2_ENST00000367993.3_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	158					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.A158fs*2(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	GTGGAGTTCAGCCCCCCGATAT	0.624																																						ENST00000367996.4																			1	Insertion - Frameshift(1)	p.A158fs*2(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43						c.(472-474)tgafs		ADAM metallopeptidase with thrombospondin type 1 motif, 4																																				SO:0001589	frameshift_variant	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161167945_161167946insC	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.473dupG	1.37:g.161167951_161167951dupC	ENSP00000356975:p.Ala158fs					ADAMTS4_ENST00000367995.3_Frame_Shift_Ins_p.*158fs	p.*158fs	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		1	900_901	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		158					Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Frame_Shift_Ins	INS	ENST00000367996.5	37	c.472_473insG	CCDS1223.1																																																																																				0.624	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		7	172						7	172	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175096158	175096159	+	Frame_Shift_Ins	INS	-	-	C	rs59588723	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:175096158_175096159insC	ENST00000239462.4	+	13	3095_3096	c.2982_2983insC	c.(2983-2985)cccfs	p.P995fs		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	995	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGACCTGGACGCCCCCCTCTGC	0.505																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(2980-2985)acccccfs		tenascin N																																				SO:0001589	frameshift_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175096158_175096159insC	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2988dupC	1.37:g.175096164_175096164dupC	ENSP00000239462:p.Pro995fs						p.TP994fs	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	13	3095_3096	+		Breast(1374;0.000962)	994			Fibronectin type-III 9.		B9EGP3|Q5R360	Frame_Shift_Ins	INS	ENST00000239462.4	37	c.2982_2983insC	CCDS30943.1																																																																																				0.505	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		7	763						7	763	---	---	---	---
RNASEL	6041	broad.mit.edu	37	1	182554908	182554909	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:182554908_182554909insC	ENST00000367559.3	-	2	1286_1287	c.1033_1034insG	c.(1033-1035)gcafs	p.A345fs	RNASEL_ENST00000444138.1_Frame_Shift_Ins_p.A345fs|RNASEL_ENST00000539397.1_Frame_Shift_Ins_p.A345fs	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	345					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CTTCAGGGCTGCCCCCCAGTGT	0.455																																						ENST00000367559.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						c.(1033-1035)agcfs		ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)																																				SO:0001589	frameshift_variant	6041				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182554908_182554909insC	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.1034dupG	1.37:g.182554914_182554914dupC	ENSP00000356530:p.Ala345fs					RNASEL_ENST00000444138.1_Frame_Shift_Ins_p.S345fs|RNASEL_ENST00000539397.1_Frame_Shift_Ins_p.S345fs	p.S345fs	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN			2	1286_1287	-			345					Q5W0L2|Q6AI46	Frame_Shift_Ins	INS	ENST00000367559.3	37	c.1033_1034insG	CCDS1347.1																																																																																				0.455	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		9	332						9	332	---	---	---	---
DHX9	1660	broad.mit.edu	37	1	182852697	182852698	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:182852697_182852698insC	ENST00000367549.3	+	26	3297_3298	c.3187_3188insC	c.(3187-3189)accfs	p.T1063fs	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1063				T -> P (in Ref. 1; AAB48855 and 3; CAA71668). {ECO:0000305}.	ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GACTTTAGTCACCCCCCTGCAG	0.441																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(3187-3189)cccfs		DEAH (Asp-Glu-Ala-His) box helicase 9																																				SO:0001589	frameshift_variant	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182852697_182852698insC	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.3193dupC	1.37:g.182852703_182852703dupC	ENSP00000356520:p.Thr1063fs					DHX9_ENST00000485081.1_3'UTR	p.P1063fs	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			26	3297_3298	+			1063	T -> P (in Ref. 1; AAB48855 and 2; CAA71668).				B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Frame_Shift_Ins	INS	ENST00000367549.3	37	c.3187_3188insC	CCDS41444.1																																																																																				0.441	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		7	455						7	455	---	---	---	---
KIF21B	23046	broad.mit.edu	37	1	200977975	200977976	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:200977975_200977976insC	ENST00000422435.2	-	3	684_685	c.368_369insG	c.(367-369)ggcfs	p.G123fs	KIF21B_ENST00000461742.2_Frame_Shift_Ins_p.G123fs|KIF21B_ENST00000360529.5_Frame_Shift_Ins_p.G123fs|KIF21B_ENST00000332129.2_Frame_Shift_Ins_p.G123fs	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	123	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCTCGGCAATGCCCCCAAAGAG	0.644																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(367-369)gatfs		kinesin family member 21B																																				SO:0001589	frameshift_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200977975_200977976insC	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.369dupG	1.37:g.200977980_200977980dupC	ENSP00000411831:p.Gly123fs					KIF21B_ENST00000422435.2_Frame_Shift_Ins_p.D123fs|KIF21B_ENST00000461742.2_Frame_Shift_Ins_p.D123fs|KIF21B_ENST00000360529.5_Frame_Shift_Ins_p.D123fs	p.D123fs	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			3	684_685	-			123			Kinesin-motor.		B2RP62|B7ZMI0|Q5T4J3	Frame_Shift_Ins	INS	ENST00000422435.2	37	c.368_369insG	CCDS58056.1																																																																																				0.644	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		7	494						7	494	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:201046125_201046126insC	ENST00000362061.3	-	12	1975_1976	c.1749_1750insG	c.(1747-1752)gggaggfs	p.R584fs	CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.R584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	584					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGTCATACCTCCCCCCAAAGA	0.574																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1747-1752)ggggtafs		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)																																			SO:0001589	frameshift_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201046125_201046126insC	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1750dupG	1.37:g.201046131_201046131dupC	ENSP00000355192:p.Arg584fs					CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs	p.V584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			12	1975_1976	-			584					A4IF51|B1ALM2|Q12896|Q13934	Frame_Shift_Ins	INS	ENST00000362061.3	37	c.1749_1750insG	CCDS1407.1																																																																																				0.574	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		17	633						17	633	---	---	---	---
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4504-4506)cccfs	p.P1502fs	NAV1_ENST00000367297.4_Frame_Shift_Ins_p.P1494fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.P1108fs|MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.P1455fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.P1499fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.P1442fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1502					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGATGCAGAGCCCCCCGAGAT	0.525																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(4501-4506)gaccccfs		neuron navigator 1																																				SO:0001589	frameshift_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201779175_201779176insC	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4509dupC	1.37:g.201779181_201779181dupC	ENSP00000356265:p.Pro1502fs					NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs	p.DP1501fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			23	4923_4924	+			1501					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Frame_Shift_Ins	INS	ENST00000367296.4	37	c.4503_4504insC	CCDS1414.2																																																																																				0.525	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		8	501						8	501	---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-258)atccccfs	p.IP85fs	ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.IP85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.48																																						ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(253-255)accfs		ATPase, Ca++ transporting, plasma membrane 4																																				SO:0001589	frameshift_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203667345_203667346insC	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.261dupC	1.37:g.203667352_203667352dupC	ENSP00000350310:p.Ile85fs					ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs	p.T85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		3	1377_1378	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		85					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Frame_Shift_Ins	INS	ENST00000357681.5	37	c.254_255insC	CCDS1440.1																																																																																				0.480	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		14	359						14	359	---	---	---	---
GOLT1A	127845	broad.mit.edu	37	1	204170835	204170836	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:204170835_204170836insC	ENST00000308302.3	-	3	406_407	c.221_222insG	c.(220-222)ggtfs	p.G74fs	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A											kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CGATAACCACACCCCCCAGGAG	0.545																																						ENST00000308302.3																			0				kidney(1)|lung(2)|urinary_tract(1)	4						c.(220-222)ggtfs		golgi transport 1A																																				SO:0001589	frameshift_variant	127845				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		g.chr1:204170835_204170836insC	BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"""golgi transport 1 homolog A (S. cerevisiae)"""			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.222dupG	1.37:g.204170841_204170841dupC	ENSP00000308535:p.Gly74fs						p.G74fs	NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		3	406_407	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		74						Frame_Shift_Ins	INS	ENST00000308302.3	37	c.221_222insG	CCDS1443.1																																																																																				0.545	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447		8	805						8	805	---	---	---	---
DYRK3	8444	broad.mit.edu	37	1	206821937	206821938	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:206821937_206821938insG	ENST00000367109.2	+	3	1562_1563	c.1394_1395insG	c.(1393-1398)gtggggfs	p.VG465fs	DYRK3_ENST00000367106.1_Frame_Shift_Ins_p.VG445fs|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Frame_Shift_Ins_p.VG445fs	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	465	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.V430V(1)|p.V465V(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GTTGTGCTTGTGGGGGGTCGCT	0.53																																					Melanoma(164;427 2622 26826 51707)	ENST00000367106.1																			2	Substitution - coding silent(2)	p.V430V(1)|p.V465V(1)	lung(2)	central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25						c.(1333-1335)gggfs		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3																																				SO:0001589	frameshift_variant	8444				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:206821937_206821938insG	Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1400dupG	1.37:g.206821943_206821943dupG	ENSP00000356076:p.Val465fs					DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Frame_Shift_Ins_p.G465fs|DYRK3_ENST00000367108.3_Frame_Shift_Ins_p.G445fs	p.G445fs			O43781	DYRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		4	1807_1808	+	Breast(84;0.183)		465			Protein kinase.		D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Frame_Shift_Ins	INS	ENST00000367109.2	37	c.1334_1335insG	CCDS30999.1																																																																																				0.530	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582		9	623						9	623	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:207642043_207642044insC	ENST00000367058.3	+	3	806_807	c.617_618insC	c.(616-621)gtccccfs	p.VP206fs	CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000367057.3_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.VP206fs	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396																																						ENST00000367057.3																			1	Deletion - Frameshift(1)	p.T209fs*10(1)	breast(1)	NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(616-618)gccfs		complement component (3d/Epstein Barr virus) receptor 2																																				SO:0001589	frameshift_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207642043_207642044insC	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.624dupC	1.37:g.207642050_207642050dupC	ENSP00000356025:p.Val206fs					CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs	p.A206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			3	806_807	+			206			Sushi 3.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Frame_Shift_Ins	INS	ENST00000367058.3	37	c.617_618insC	CCDS1478.1																																																																																				0.396	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		11	518						11	518	---	---	---	---
PLXNA2	5362	broad.mit.edu	37	1	208315786	208315787	+	Frame_Shift_Ins	INS	-	-	G	rs200374067	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:208315786_208315787insG	ENST00000367033.3	-	4	2150_2151	c.1393_1394insC	c.(1393-1395)catfs	p.H465fs		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	465	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.H465fs*57(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GACCCCACCATGGGGGGGACCG	0.594																																						ENST00000367033.3																			1	Deletion - Frameshift(1)	p.H465fs*57(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(1393-1395)tggfs		plexin A2																																				SO:0001589	frameshift_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208315786_208315787insG	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1394dupC	1.37:g.208315793_208315793dupG	ENSP00000356000:p.His465fs						p.W465fs	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	4	2150_2151	-			465			Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Frame_Shift_Ins	INS	ENST00000367033.3	37	c.1393_1394insC	CCDS31013.1																																																																																				0.594	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		19	1128						19	1128	---	---	---	---
CAMK1G	57172	broad.mit.edu	37	1	209782336	209782337	+	Frame_Shift_Ins	INS	-	-	C	rs144298174		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:209782336_209782337insC	ENST00000009105.1	+	8	892_893	c.647_648insC	c.(646-651)taccccfs	p.YP216fs	CAMK1G_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Frame_Shift_Ins_p.YP216fs			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	216	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CTCTGTGGATACCCCCCATTCT	0.51																																					Ovarian(163;530 1939 9680 28669 48710)	ENST00000009105.1																			0				breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20						c.(646-648)tccfs		calcium/calmodulin-dependent protein kinase IG																																				SO:0001589	frameshift_variant	57172					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr1:209782336_209782337insC		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.653dupC	1.37:g.209782342_209782342dupC	ENSP00000009105:p.Tyr216fs					CAMK1G_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Frame_Shift_Ins_p.S216fs	p.S216fs			Q96NX5	KCC1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0475)	8	892_893	+			216			Protein kinase.		Q86UH5|Q9Y3J7	Frame_Shift_Ins	INS	ENST00000009105.1	37	c.647_648insC	CCDS1486.1																																																																																				0.510	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439		7	569						7	569	---	---	---	---
ACTA1	58	broad.mit.edu	37	1	229567546	229567547	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:229567546_229567547insC	ENST00000366684.3	-	6	1013_1014	c.911_912insG	c.(910-912)ggcfs	p.G304fs	ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.G216fs	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	304					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				ACATCGTGGTGCCCCCCGACAT	0.589																																						ENST00000366684.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.(910-912)gacfs		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)																																			SO:0001589	frameshift_variant	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229567546_229567547insC	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.912dupG	1.37:g.229567552_229567552dupC	ENSP00000355645:p.Gly304fs					ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.D216fs	p.D304fs	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN			6	1013_1014	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	304					P02568|P99020|Q5T8M9	Frame_Shift_Ins	INS	ENST00000366684.3	37	c.911_912insG	CCDS1578.1																																																																																				0.589	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		9	258						9	258	---	---	---	---
ANTXR1	84168	broad.mit.edu	37	2	69409763	69409764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:69409763_69409764insC	ENST00000303714.4	+	16	1646_1647	c.1324_1325insC	c.(1324-1326)tccfs	p.S442fs	RNA5SP96_ENST00000516041.1_RNA|RNU6-1216P_ENST00000362590.2_RNA	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	442					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCGGCCTTCTTCCCCCCGGAAG	0.421									Familial Infantile Hemangioma																													ENST00000303714.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1324-1326)cccfs		anthrax toxin receptor 1																																				SO:0001589	frameshift_variant	84168	Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69409763_69409764insC	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1330dupC	2.37:g.69409769_69409769dupC	ENSP00000301945:p.Ser442fs						p.P442fs	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN			16	1646_1647	+			442					A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Frame_Shift_Ins	INS	ENST00000303714.4	37	c.1324_1325insC	CCDS1892.1																																																																																				0.421	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		9	351						9	351	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71839796	71839797	+	Frame_Shift_Ins	INS	-	-	C	rs398123786		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:71839796_71839797insC	ENST00000258104.3	+	39	4470_4471	c.4193_4194insC	c.(4192-4197)tgccccfs	p.CP1398fs	DYSF_ENST00000409651.1_Frame_Shift_Ins_p.CP1430fs|DYSF_ENST00000409744.1_Frame_Shift_Ins_p.CP1385fs|DYSF_ENST00000409762.1_Frame_Shift_Ins_p.CP1415fs|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Frame_Shift_Ins_p.CP1399fs|DYSF_ENST00000410020.3_Frame_Shift_Ins_p.CP1416fs|DYSF_ENST00000429174.2_Frame_Shift_Ins_p.CP1398fs|DYSF_ENST00000410041.1_Frame_Shift_Ins_p.CP1416fs|DYSF_ENST00000409582.3_Frame_Shift_Ins_p.CP1415fs|DYSF_ENST00000413539.2_Frame_Shift_Ins_p.CP1429fs|DYSF_ENST00000409366.1_Frame_Shift_Ins_p.CP1399fs	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1398	C2 5. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGCTCTACTGCCCCCCCATCA	0.619																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111	GRCh37	CM053841	DYSF	M		c.(4192-4194)tccfs		dysferlin																																				SO:0001589	frameshift_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71839796_71839797insC	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4200dupC	2.37:g.71839803_71839803dupC	ENSP00000258104:p.Cys1398fs					DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Frame_Shift_Ins_p.S1430fs|DYSF_ENST00000429174.2_Frame_Shift_Ins_p.S1398fs|DYSF_ENST00000413539.2_Frame_Shift_Ins_p.S1429fs|DYSF_ENST00000410020.3_Frame_Shift_Ins_p.S1416fs|DYSF_ENST00000410041.1_Frame_Shift_Ins_p.S1416fs|DYSF_ENST00000409744.1_Frame_Shift_Ins_p.S1385fs|DYSF_ENST00000409762.1_Frame_Shift_Ins_p.S1415fs|DYSF_ENST00000409582.3_Frame_Shift_Ins_p.S1415fs|DYSF_ENST00000409366.1_Frame_Shift_Ins_p.S1399fs|DYSF_ENST00000394120.2_Frame_Shift_Ins_p.S1399fs	p.S1398fs	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			39	4470_4471	+			1398					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Frame_Shift_Ins	INS	ENST00000258104.3	37	c.4193_4194insC	CCDS1918.1																																																																																				0.619	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		19	230						19	230	---	---	---	---
SLC4A5	57835	broad.mit.edu	37	2	74480126	74480127	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:74480126_74480127insG	ENST00000377634.4	-	15	1641_1642	c.1242_1243insC	c.(1240-1245)cccaagfs	p.K415fs	SLC4A5_ENST00000423644.1_Frame_Shift_Ins_p.K415fs|SLC4A5_ENST00000357822.5_Frame_Shift_Ins_p.K415fs|SLC4A5_ENST00000394019.2_Frame_Shift_Ins_p.K415fs|SLC4A5_ENST00000358683.4_Frame_Shift_Ins_p.K351fs|SLC4A5_ENST00000377632.1_Frame_Shift_Ins_p.K415fs|SLC4A5_ENST00000359484.4_Frame_Shift_Ins_p.K351fs|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000346834.4_Frame_Shift_Ins_p.K415fs|RP11-287D1.3_ENST00000451608.2_3'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGCACCTTCTTGGGGGGCTCAA	0.475																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1240-1245)ccagaafs		solute carrier family 4 (sodium bicarbonate cotransporter), member 5																																				SO:0001589	frameshift_variant	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74480126_74480127insG	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1243dupC	2.37:g.74480132_74480132dupG	ENSP00000366861:p.Lys415fs					SLC4A5_ENST00000423644.1_Frame_Shift_Ins_p.E415fs|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377632.1_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000377634.4_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000359484.4_Frame_Shift_Ins_p.E351fs|SLC4A5_ENST00000358683.4_Frame_Shift_Ins_p.E351fs|SLC4A5_ENST00000357822.5_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000346834.4_Frame_Shift_Ins_p.E415fs	p.E415fs	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			15	1639_1640	-			415						Frame_Shift_Ins	INS	ENST00000377634.4	37	c.1242_1243insC	CCDS1936.1																																																																																				0.475	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			7	196						7	196	---	---	---	---
DCTN1	1639	broad.mit.edu	37	2	74593376	74593377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:74593376_74593377insG	ENST00000361874.3	-	23	3071_3072	c.2754_2755insC	c.(2752-2757)cccagcfs	p.S919fs	DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.S882fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.S785fs|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.S912fs|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.S902fs|DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.S785fs|DCTN1_ENST00000495643.1_5'UTR|RP11-287D1.3_ENST00000451608.2_5'Flank|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.S899fs	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	919					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTACCTTGCTGGGGGGCCGCT	0.559																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(2752-2757)ccgcaafs		dynactin 1																																				SO:0001589	frameshift_variant	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74593376_74593377insG		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2755dupC	2.37:g.74593382_74593382dupG	ENSP00000354791:p.Ser919fs					DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.Q899fs|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.Q882fs|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.Q912fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.Q902fs|DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.Q785fs	p.Q919fs	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			23	3071_3072	-			919					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Frame_Shift_Ins	INS	ENST00000361874.3	37	c.2754_2755insC	CCDS1939.1																																																																																				0.559	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		10	784						10	784	---	---	---	---
SEMA4F	10505	broad.mit.edu	37	2	74906845	74906846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:74906845_74906846insC	ENST00000357877.2	+	14	1971_1972	c.1822_1823insC	c.(1822-1824)accfs	p.T608fs	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Frame_Shift_Ins_p.T453fs	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	608	Ig-like C2-type.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GACTGCACTCACCCCCCGGCGG	0.629																																						ENST00000357877.2																			0				biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						c.(1822-1824)cccfs		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F																																				SO:0001589	frameshift_variant	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74906845_74906846insC	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1828dupC	2.37:g.74906851_74906851dupC	ENSP00000350547:p.Thr608fs					SEMA4F_ENST00000339773.5_Frame_Shift_Ins_p.P453fs|SEMA4F_ENST00000473350.1_3'UTR	p.P608fs	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN			14	1971_1972	+			608			Ig-like C2-type.		Q542Y7|Q9NS35	Frame_Shift_Ins	INS	ENST00000357877.2	37	c.1822_1823insC	CCDS1955.1																																																																																				0.629	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		7	266						7	266	---	---	---	---
ANKRD23	200539	broad.mit.edu	37	2	97507820	97507821	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:97507820_97507821insG	ENST00000318357.4	-	3	317_318	c.276_277insC	c.(274-279)cccaggfs	p.R93fs	ANKRD23_ENST00000418232.1_Frame_Shift_Ins_p.R93fs|ANKRD23_ENST00000331001.2_Frame_Shift_Ins_p.R93fs|ANKRD23_ENST00000476975.1_5'UTR	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	93					fatty acid metabolic process (GO:0006631)|response to mechanical stimulus (GO:0009612)	I band (GO:0031674)|intercalated disc (GO:0014704)|nucleus (GO:0005634)	titin binding (GO:0031432)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						TCAGGTTTCCTGGGGGGGACTC	0.53																																						ENST00000318357.4																			0				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						c.(274-279)ccggaafs		ankyrin repeat domain 23				3,4263		0,3,2130						4.5	1.0			89	6,8248		0,6,4121	no	frameshift	ANKRD23	NM_144994.7		0,9,6251	A1A1,A1R,RR		0.0727,0.0703,0.0719				9,12511				SO:0001589	frameshift_variant	200539					nucleus		g.chr2:97507820_97507821insG		CCDS2027.1	2q11.2	2013-01-10			ENSG00000163126	ENSG00000163126		"""Ankyrin repeat domain containing"""	24470	protein-coding gene	gene with protein product	"""diabetes related ankyrin repeat protein"""	610736				12456686	Standard	NM_144994		Approved	DARP, FLJ32449, MARP3	uc002sxa.3	Q86SG2	OTTHUMG00000130534	ENST00000318357.4:c.277dupC	2.37:g.97507827_97507827dupG	ENSP00000321679:p.Arg93fs					ANKRD23_ENST00000418232.1_Frame_Shift_Ins_p.E93fs|ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000331001.2_Frame_Shift_Ins_p.E93fs	p.E93fs	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN			3	317_318	-			93					Q711K7|Q8NAJ7	Frame_Shift_Ins	INS	ENST00000318357.4	37	c.276_277insC	CCDS2027.1																																																																																				0.530	ANKRD23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252956.1	NM_144994		8	566						8	566	---	---	---	---
IL1R2	7850	broad.mit.edu	37	2	102638681	102638682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:102638681_102638682insC	ENST00000332549.3	+	6	950_951	c.721_722insC	c.(721-723)tccfs	p.S241fs	IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.S241fs|IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.S241fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	241	Ig-like C2-type 3.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						TGTGATCATTTCCCCCCTCAAG	0.49																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(721-723)cccfs		interleukin 1 receptor, type II	Anakinra(DB00026)																																			SO:0001589	frameshift_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102638681_102638682insC	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.727dupC	2.37:g.102638687_102638687dupC	ENSP00000330959:p.Ser241fs					IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.P241fs|IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.P241fs	p.P241fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN			6	950_951	+			241			Ig-like C2-type 3.		D3DVJ5|Q6LCE6|Q9UE68	Frame_Shift_Ins	INS	ENST00000332549.3	37	c.721_722insC	CCDS2054.1																																																																																				0.490	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		17	990						17	990	---	---	---	---
EDAR	10913	broad.mit.edu	37	2	109539836	109539837	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:109539836_109539837insG	ENST00000258443.2	-	5	859_860	c.429_430insC	c.(427-432)cccaacfs	p.N144fs	EDAR_ENST00000409271.1_Frame_Shift_Ins_p.N144fs|EDAR_ENST00000376651.1_Frame_Shift_Ins_p.N144fs	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	144					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TCCTTGGTGTTGGGGGGTGCCA	0.535																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(427-432)ccacacfs		ectodysplasin A receptor																																				SO:0001589	frameshift_variant	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109539836_109539837insG	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.430dupC	2.37:g.109539842_109539842dupG	ENSP00000258443:p.Asn144fs					EDAR_ENST00000258443.2_Frame_Shift_Ins_p.H144fs|EDAR_ENST00000376651.1_Frame_Shift_Ins_p.H144fs	p.H144fs			Q9UNE0	EDAR_HUMAN			6	872_873	-			144					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Frame_Shift_Ins	INS	ENST00000258443.2	37	c.429_430insC	CCDS2081.1																																																																																				0.535	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			8	435						8	435	---	---	---	---
MYO7B	4648	broad.mit.edu	37	2	128383065	128383066	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:128383065_128383066insC	ENST00000409816.2	+	29	4124_4125	c.4092_4093insC	c.(4093-4095)cccfs	p.P1365fs	MYO7B_ENST00000428314.1_Frame_Shift_Ins_p.P1365fs|RP11-286H15.1_ENST00000609697.1_RNA|MYO7B_ENST00000389524.4_Frame_Shift_Ins_p.P1365fs|MYO7B_ENST00000409090.1_Frame_Shift_Ins_p.P218fs			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1365	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACAGGACCAAGCCCCCAGACAG	0.678																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(4090-4095)aaccccfs		myosin VIIB																																				SO:0001589	frameshift_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128383065_128383066insC		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.4097dupC	2.37:g.128383070_128383070dupC	ENSP00000386461:p.Pro1365fs					MYO7B_ENST00000409816.2_Frame_Shift_Ins_p.NP1364fs|MYO7B_ENST00000428314.1_Frame_Shift_Ins_p.NP1364fs|MYO7B_ENST00000409090.1_Frame_Shift_Ins_p.NP217fs	p.NP1364fs			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	30	4145_4146	+	Colorectal(110;0.1)		1364			FERM 1.		Q14786|Q8TEE1	Frame_Shift_Ins	INS	ENST00000409816.2	37	c.4092_4093insC	CCDS46405.1																																																																																				0.678	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		8	1106						8	1106	---	---	---	---
WDR33	55339	broad.mit.edu	37	2	128467384	128467385	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:128467384_128467385insG	ENST00000322313.4	-	19	3512_3513	c.3354_3355insC	c.(3352-3357)cccagafs	p.R1119fs		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1119					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCCCTTCCTCTGGGGGGAGCAC	0.545																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(3352-3357)ccgaggfs		WD repeat domain 33																																				SO:0001589	frameshift_variant	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128467384_128467385insG		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3355dupC	2.37:g.128467390_128467390dupG	ENSP00000325377:p.Arg1119fs						p.R1119fs	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	19	3512_3513	-	Colorectal(110;0.1)		1119					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Frame_Shift_Ins	INS	ENST00000322313.4	37	c.3354_3355insC	CCDS2150.1																																																																																				0.545	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		9	500						9	500	---	---	---	---
FIGN	55137	broad.mit.edu	37	2	164467542	164467543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:164467542_164467543insC	ENST00000333129.3	-	3	1113_1114	c.799_800insG	c.(799-801)gcafs	p.A267fs	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	267	Pro-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.A267fs*100(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGGAGGCGGTGCCCCCCCAGGG	0.609																																						ENST00000333129.3																			2	Insertion - Frameshift(2)	p.A267fs*100(2)	large_intestine(2)	breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(799-801)accfs		fidgetin																																				SO:0001589	frameshift_variant	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467542_164467543insC	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.800dupG	2.37:g.164467549_164467549dupC	ENSP00000333836:p.Ala267fs					FIGN_ENST00000409634.1_Intron	p.T267fs	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	1113_1114	-			267			Pro-rich.		B3KWM0|Q9H6M5|Q9NVZ9	Frame_Shift_Ins	INS	ENST00000333129.3	37	c.799_800insG	CCDS2221.2																																																																																				0.609	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		8	112						8	112	---	---	---	---
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G	rs201174472|rs387906384		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cacfs	p.H206fs	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619																																						ENST00000295108.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	GRCh37	CI992797	NEUROD1	I		c.(616-618)cctfs		neuronal differentiation 1																																				SO:0001589	frameshift_variant	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182542971_182542972insG	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.617dupC	2.37:g.182542978_182542978dupG	ENSP00000295108:p.His206fs					NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	p.P206fs	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	1073_1074	-			206					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Frame_Shift_Ins	INS	ENST00000295108.3	37	c.616_617insC	CCDS2283.1																																																																																				0.619	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		17	359						17	359	---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G	rs567294324		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)aggfs	p.R559fs	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.R513fs|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.R523fs	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GACTATTTCAAGGGGGGGACTG	0.431																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1675-1677)gggfs		integrin, alpha V																																				SO:0001589	frameshift_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187521084_187521085insG		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1682dupG	2.37:g.187521091_187521091dupG	ENSP00000261023:p.Arg559fs					AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs	p.G559fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	17	1949_1950	+			559					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Frame_Shift_Ins	INS	ENST00000261023.3	37	c.1675_1676insG	CCDS2292.1																																																																																				0.431	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		17	449						17	449	---	---	---	---
ADAM23	8745	broad.mit.edu	37	2	207460860	207460861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:207460860_207460861insC	ENST00000264377.3	+	24	2661_2662	c.2333_2334insC	c.(2332-2337)caccccfs	p.HP778fs	ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.HP778fs|ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.HP778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	778					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K781fs*3(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGAACCTTCACCCCCCCAAGG	0.455																																					Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3																			2	Insertion - Frameshift(2)	p.K781fs*3(2)	ovary(2)	NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51						c.(2332-2334)cccfs		ADAM metallopeptidase domain 23																																				SO:0001589	frameshift_variant	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207460860_207460861insC	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.2340dupC	2.37:g.207460867_207460867dupC	ENSP00000264377:p.His778fs					ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.P778fs|ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.P778fs	p.P778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	24	2661_2662	+			778					A2RU59	Frame_Shift_Ins	INS	ENST00000264377.3	37	c.2333_2334insC	CCDS2369.1																																																																																				0.455	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		7	145						7	145	---	---	---	---
CRYGA	1418	broad.mit.edu	37	2	209025576	209025577	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:209025576_209025577insC	ENST00000304502.4	-	3	495_496	c.476_477insG	c.(475-477)ggtfs	p.G159fs		NM_014617.3	NP_055432.2	P11844	CRGA_HUMAN	crystallin, gamma A	159	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		TGGCATCTGCACCCCCCCAGTC	0.53																																						ENST00000304502.4																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12						c.(475-477)ggcfs		crystallin, gamma A																																				SO:0001589	frameshift_variant	1418							g.chr2:209025576_209025577insC		CCDS33367.1	2q34	2013-02-14			ENSG00000168582	ENSG00000168582			2408	protein-coding gene	gene with protein product	"""gamma crystallin 5"""	123660		CRYG1			Standard	NM_014617		Approved	CRYG5, CRY-g-A		P11844	OTTHUMG00000154796	ENST00000304502.4:c.477dupG	2.37:g.209025583_209025583dupC	ENSP00000302105:p.Gly159fs						p.G159fs	NM_014617.3	NP_055432.2				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)	3	495_496	-								Q53ST5	Frame_Shift_Ins	INS	ENST00000304502.4	37	c.476_477insG	CCDS33367.1																																																																																				0.530	CRYGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337096.1	NM_014617		8	138						8	138	---	---	---	---
RNF25	64320	broad.mit.edu	37	2	219529513	219529514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:219529513_219529514insC	ENST00000295704.2	-	9	1189_1190	c.749_750insG	c.(748-750)ggafs	p.G250fs		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	250					positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I251fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCAATGATTCCCCCCCGCTC	0.564																																						ENST00000295704.2																			1	Insertion - Frameshift(1)	p.I251fs*3(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(748-750)gatfs		ring finger protein 25																																				SO:0001589	frameshift_variant	64320				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:219529513_219529514insC		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.750dupG	2.37:g.219529520_219529520dupC	ENSP00000295704:p.Gly250fs						p.D250fs	NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1189_1190	-		Renal(207;0.0474)	250					A8K0D6|Q53HQ5|Q9H874	Frame_Shift_Ins	INS	ENST00000295704.2	37	c.749_750insG	CCDS2420.1																																																																																				0.564	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453		13	313						13	313	---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219883882	219883883	+	Frame_Shift_Ins	INS	-	-	G	rs568903495|rs189561241	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:219883882_219883883insG	ENST00000341552.5	-	21	3575_3576	c.3492_3493insC	c.(3490-3495)cccgtcfs	p.V1165fs	CCDC108_ENST00000453220.1_Frame_Shift_Ins_p.V1165fs|CCDC108_ENST00000441968.1_Frame_Shift_Ins_p.V1165fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1165						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGTGAGGACGGGGGGGATCT	0.614																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(3490-3495)cctcctfs		coiled-coil domain containing 108				4,4248		0,4,2122						-2.8	0.0			53	5,8229		0,5,4112	no	frameshift	CCDC108	NM_194302.2		0,9,6234	A1A1,A1R,RR		0.0607,0.0941,0.0721				9,12477				SO:0001589	frameshift_variant	255101					integral to membrane	structural molecule activity	g.chr2:219883882_219883883insG	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.3493dupC	2.37:g.219883889_219883889dupG	ENSP00000340776:p.Val1165fs					CCDC108_ENST00000453220.1_Frame_Shift_Ins_p.P1165fs|CCDC108_ENST00000441968.1_Frame_Shift_Ins_p.P1165fs	p.P1165fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	21	3575_3576	-		Renal(207;0.0915)	1165					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Frame_Shift_Ins	INS	ENST00000341552.5	37	c.3492_3493insC	CCDS2430.2																																																																																				0.614	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		7	88						7	88	---	---	---	---
DIS3L2	129563	broad.mit.edu	37	2	233128030	233128031	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:233128030_233128031insC	ENST00000409307.1	+	12	1539_1540	c.1539_1540insC	c.(1540-1542)cccfs	p.P514fs	DIS3L2_ENST00000325385.7_Frame_Shift_Ins_p.P514fs|DIS3L2_ENST00000273009.6_Frame_Shift_Ins_p.P514fs					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CGAAAGAGCTGCCCCCCATTTC	0.559																																						ENST00000325385.7																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40						c.(1537-1542)ctccccfs		DIS3 mitotic control homolog (S. cerevisiae)-like 2																																				SO:0001589	frameshift_variant	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233128030_233128031insC	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1545dupC	2.37:g.233128036_233128036dupC	ENSP00000386799:p.Pro514fs					DIS3L2_ENST00000273009.6_Frame_Shift_Ins_p.LP513fs|DIS3L2_ENST00000409307.1_Frame_Shift_Ins_p.LP513fs	p.LP513fs	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	13	1815_1816	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	513						Frame_Shift_Ins	INS	ENST00000409307.1	37	c.1539_1540insC	CCDS42834.1																																																																																				0.559	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		10	387						10	387	---	---	---	---
DGKD	8527	broad.mit.edu	37	2	234357832	234357833	+	Frame_Shift_Ins	INS	-	-	C	rs542183550		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:234357832_234357833insC	ENST00000264057.2	+	15	1710_1711	c.1698_1699insC	c.(1699-1701)cccfs	p.P567fs	DGKD_ENST00000409813.3_Frame_Shift_Ins_p.P523fs	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	567					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TGCCCAACCCGCCCCCCACCAT	0.614																																						ENST00000264057.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(1696-1701)ccccccfs		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234357832_234357833insC	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.1704dupC	2.37:g.234357838_234357838dupC	ENSP00000264057:p.Pro567fs					DGKD_ENST00000409813.3_Frame_Shift_Ins_p.PP522fs	p.PP566fs	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	15	1710_1711	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	566					Q14158|Q6PK55|Q8NG53	Frame_Shift_Ins	INS	ENST00000264057.2	37	c.1698_1699insC	CCDS2504.1																																																																																				0.614	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		7	415						7	415	---	---	---	---
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cacfs	p.H202fs	NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.H202fs|NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.H242fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		AATCACCAGGTGGGGGGGCAGG	0.535																																						ENST00000252711.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16						c.(604-606)cctfs		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	NADH(DB00157)																																			SO:0001589	frameshift_variant	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240954220_240954221insG	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.605dupC	2.37:g.240954227_240954227dupG	ENSP00000252711:p.His202fs					NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs|NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs	p.P202fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	5	704_705	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	202					Q8WXC9	Frame_Shift_Ins	INS	ENST00000252711.2	37	c.604_605insC	CCDS2531.1																																																																																				0.535	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		9	264						9	264	---	---	---	---
SATB1	6304	broad.mit.edu	37	3	18427922	18427923	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:18427922_18427923insG	ENST00000338745.6	-	8	3121_3122	c.1387_1388insC	c.(1387-1389)ctcfs	p.L463fs	SATB1_ENST00000417717.2_Frame_Shift_Ins_p.L463fs|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Frame_Shift_Ins_p.L463fs	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	463					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGTGCTGATGAGGGGGGCAGGA	0.515																																						ENST00000338745.6																			0				NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(1387-1389)catfs		SATB homeobox 1																																				SO:0001589	frameshift_variant	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18427922_18427923insG		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1388dupC	3.37:g.18427928_18427928dupG	ENSP00000341024:p.Leu463fs					TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Frame_Shift_Ins_p.H463fs|SATB1_ENST00000454909.2_Frame_Shift_Ins_p.H463fs	p.H463fs	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN			8	3121_3122	-			463					B3KXF1|C9JTR6|Q59EQ0	Frame_Shift_Ins	INS	ENST00000338745.6	37	c.1387_1388insC	CCDS2631.1																																																																																				0.515	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		7	423						7	423	---	---	---	---
VPRBP	9730	broad.mit.edu	37	3	51457614	51457615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:51457614_51457615insG	ENST00000335891.5	-	7	1471_1472	c.1462_1463insC	c.(1462-1464)cagfs	p.Q488fs				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	937	Protein kinase-like.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TAGCGGACCCTGGGGGGGCCGT	0.589																																						ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1462-1464)gggfs		Vpr (HIV-1) binding protein																																				SO:0001589	frameshift_variant	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51457614_51457615insG	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.1463dupC	3.37:g.51457621_51457621dupG	ENSP00000338857:p.Gln488fs						p.G488fs			Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	7	1471_1472	-			937					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Frame_Shift_Ins	INS	ENST00000335891.5	37	c.1462_1463insC																																																																																					0.589	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		7	127						7	127	---	---	---	---
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G	rs201949188		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(127-129)gggfs	p.G43fs	KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.G43fs|KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.G43fs|KCTD6_ENST00000479470.1_3'UTR	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	43	BTB.				protein homooligomerization (GO:0051260)		ankyrin binding (GO:0030506)			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465																																						ENST00000355076.6																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(124-129)ttggggfs		potassium channel tetramerization domain containing 6																																				SO:0001589	frameshift_variant	200845					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr3:58486771_58486772insG	AK074934	CCDS2891.1	3p21.2	2013-06-20	2013-06-20		ENSG00000168301	ENSG00000168301			22235	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 6"""			21472142	Standard	NM_153331		Approved	MGC27385, KCASH3	uc003dkj.4	Q8NC69	OTTHUMG00000159161	ENST00000355076.6:c.133dupG	3.37:g.58486778_58486778dupG	ENSP00000347188:p.Gly43fs					KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs	p.LG42fs	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)	2	1109_1110	+			42			BTB.		B3KNI5|Q8NBS6|Q8TCA6	Frame_Shift_Ins	INS	ENST00000355076.6	37	c.126_127insG	CCDS2891.1																																																																																				0.465	KCTD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353591.1	NM_153331		16	478						16	478	---	---	---	---
ATXN7	6314	broad.mit.edu	37	3	63981831	63981832	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:63981831_63981832insC	ENST00000295900.6	+	12	2883_2884	c.2333_2334insC	c.(2332-2337)ggccccfs	p.GP778fs	ATXN7_ENST00000538065.1_Frame_Shift_Ins_p.GP778fs|ATXN7_ENST00000484332.1_Frame_Shift_Ins_p.GP633fs|ATXN7_ENST00000398590.3_Frame_Shift_Ins_p.GP778fs|ATXN7_ENST00000487717.1_Frame_Shift_Ins_p.GP778fs	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	778	Ser-rich.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TCAGGGAGGGGCCCCCCCACCG	0.545																																						ENST00000398590.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35						c.(2332-2334)gccfs		ataxin 7																																				SO:0001589	frameshift_variant	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63981831_63981832insC	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.2340dupC	3.37:g.63981838_63981838dupC	ENSP00000295900:p.Gly778fs					ATXN7_ENST00000538065.1_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000487717.1_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000484332.1_Frame_Shift_Ins_p.A633fs|ATXN7_ENST00000295900.6_Frame_Shift_Ins_p.A778fs	p.A778fs	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	12	2886_2887	+		Prostate(884;0.0181)	778			Ser-rich.		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Frame_Shift_Ins	INS	ENST00000295900.6	37	c.2333_2334insC	CCDS43102.1																																																																																				0.545	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		9	125						9	125	---	---	---	---
WDR5B	54554	broad.mit.edu	37	3	122133489	122133489	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:122133489delT	ENST00000330689.4	-	1	1393	c.887delA	c.(886-888)catfs	p.H296fs	RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608465.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	296										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		AACATCTGTATGGCCTTGTAA	0.408																																						ENST00000330689.4																			0				kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13						c.(886-888)ctfs		WD repeat domain 5B							165.0	152.0	156.0					3																	122133489		2203	4300	6503	SO:0001589	frameshift_variant	54554							g.chr3:122133489delT	AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"""WD repeat domain containing"""	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.887delA	3.37:g.122133489delT	ENSP00000330381:p.His296fs						p.H296fs	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0704)	1	1393	-			296					B2RCM9|Q9NUL4	Frame_Shift_Del	DEL	ENST00000330689.4	37	c.887delA	CCDS3012.1																																																																																				0.408	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1	NM_019069		20	395						20	395	---	---	---	---
PDIA5	10954	broad.mit.edu	37	3	122869088	122869089	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:122869088_122869089insC	ENST00000316218.7	+	14	1245_1246	c.1150_1151insC	c.(1150-1152)gccfs	p.A384fs	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	384	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.|Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CAGCCCTGAGGCCCCCCCGCCC	0.604																																						ENST00000316218.7																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21						c.(1150-1152)cccfs		protein disulfide isomerase family A, member 5				3,4263		0,3,2130						2.4	1.0			51	1,8251		0,1,4125	no	frameshift	PDIA5	NM_006810.3		0,4,6255	A1A1,A1R,RR		0.0121,0.0703,0.032				4,12514				SO:0001589	frameshift_variant	10954				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122869088_122869089insC	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.1157dupC	3.37:g.122869095_122869095dupC	ENSP00000323313:p.Ala384fs					PDIA5_ENST00000467157.1_3'UTR	p.P384fs	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	14	1245_1246	+			384			Thioredoxin 2.|Thioredoxin 3.		D3DN95|Q9BV43	Frame_Shift_Ins	INS	ENST00000316218.7	37	c.1150_1151insC	CCDS3020.1																																																																																				0.604	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		9	261						9	261	---	---	---	---
SLC12A8	84561	broad.mit.edu	37	3	124810981	124810982	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:124810981_124810982insT	ENST00000393469.4	-	10	1815_1816	c.1766_1767insA	c.(1765-1767)tatfs	p.Y589fs	SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000430155.2_Frame_Shift_Ins_p.Y390fs|SLC12A8_ENST00000423114.2_Frame_Shift_Ins_p.Y618fs|SLC12A8_ENST00000469902.1_Frame_Shift_Ins_p.Y589fs	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	589					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						ACATGTGGGTATAGAAAGAAGT	0.45																																						ENST00000423114.2																			0				endometrium(2)|kidney(2)|lung(12)	16						c.(1852-1854)tacfs		solute carrier family 12, member 8																																				SO:0001589	frameshift_variant	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124810981_124810982insT		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.1767dupA	3.37:g.124810982_124810982dupT	ENSP00000377112:p.Tyr589fs					SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000430155.2_Frame_Shift_Ins_p.Y390fs|SLC12A8_ENST00000469902.1_Frame_Shift_Ins_p.Y589fs|SLC12A8_ENST00000393469.4_Frame_Shift_Ins_p.Y589fs|SLC12A8_ENST00000314584.7_Intron	p.Y618fs			A0AV02	S12A8_HUMAN			11	1852_1853	-			589					C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Frame_Shift_Ins	INS	ENST00000393469.4	37	c.1853_1854insA	CCDS43143.1																																																																																				0.450	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		37	118						37	118	---	---	---	---
TRH	7200	broad.mit.edu	37	3	129695642	129695643	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:129695642_129695643insG	ENST00000302649.3	+	3	839_840	c.312_313insG	c.(313-315)gggfs	p.G105fs	TRH_ENST00000507066.1_Frame_Shift_Ins_p.G101fs	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	105					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						aagaggaagaagggggggCTGT	0.569																																					Esophageal Squamous(60;321 1330 17401 41911)	ENST00000302649.3																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(310-315)gaggggfs		thyrotropin-releasing hormone																																				SO:0001589	frameshift_variant	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695642_129695643insG		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.319dupG	3.37:g.129695649_129695649dupG	ENSP00000303452:p.Gly105fs					TRH_ENST00000507066.1_Frame_Shift_Ins_p.EG100fs	p.EG104fs	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN			3	839_840	+			104					B2R8R1|Q2TB83	Frame_Shift_Ins	INS	ENST00000302649.3	37	c.312_313insG	CCDS3066.1																																																																																				0.569	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		8	149						8	149	---	---	---	---
LOC100507291	100507291	broad.mit.edu	37	3	139212981	139212982	+	RNA	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:139212981_139212982insC	ENST00000515247.1	+	0	317				AC097103.1_ENST00000580166.1_RNA																							GATGACCAAGGCCCCCCCTTGT	0.53																																						ENST00000515247.1																			0																																																			100507291							g.chr3:139212981_139212982insC																													3.37:g.139212988_139212988dupC														0	317	+									RNA	INS	ENST00000515247.1	37																																																																																						0.530	RP11-319G6.1-006	KNOWN	basic	antisense	antisense	OTTHUMT00000358488.1			7	73						7	73	---	---	---	---
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:141535707_141535708insG	ENST00000264952.2	+	4	1614_1615	c.1477_1478insG	c.(1477-1479)cggfs	p.R493fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	493	AGC-kinase C-terminal.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.R493L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTGAGGTTCGGGGGGTGGAA	0.46																																						ENST00000264952.2																			1	Substitution - Missense(1)	p.R493L(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1477-1479)gggfs		G protein-coupled receptor kinase 7																																				SO:0001589	frameshift_variant	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141535707_141535708insG		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1483dupG	3.37:g.141535713_141535713dupG	ENSP00000264952:p.Arg493fs						p.G493fs	NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN			4	1614_1615	+			493			AGC-kinase C-terminal.			Frame_Shift_Ins	INS	ENST00000264952.2	37	c.1477_1478insG	CCDS3120.1																																																																																				0.460	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		14	786						14	786	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	150877785	150877786	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:150877785_150877786insC	ENST00000474524.1	+	7	1042_1043	c.1004_1005insC	c.(1003-1008)ggccccfs	p.GP335fs	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Frame_Shift_Ins_p.GP335fs|MED12L_ENST00000309237.4_Frame_Shift_Ins_p.GP335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	335						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCCAGCCCTGGCCCCCCCGGCC	0.584																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(1003-1005)gccfs		mediator complex subunit 12-like																																				SO:0001589	frameshift_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150877785_150877786insC	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1011dupC	3.37:g.150877792_150877792dupC	ENSP00000417235:p.Gly335fs					MED12L_ENST00000422248.2_Frame_Shift_Ins_p.A335fs|MED12L_ENST00000309237.4_Frame_Shift_Ins_p.A335fs|MED12L_ENST00000273432.4_Intron	p.A335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		7	1042_1043	+			335					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Frame_Shift_Ins	INS	ENST00000474524.1	37	c.1004_1005insC	CCDS33876.1																																																																																				0.584	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		10	126						10	126	---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183700629	183700630	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:183700629_183700630insC	ENST00000334444.6	-	6	997_998	c.757_758insG	c.(757-759)gccfs	p.A253fs	ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.A253fs|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	253	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GGTTAGGATGGCCCCCCGCAAG	0.515																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(757-759)catfs		ATP-binding cassette, sub-family C (CFTR/MRP), member 5																																				SO:0001589	frameshift_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183700629_183700630insC	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.758dupG	3.37:g.183700635_183700635dupC	ENSP00000333926:p.Ala253fs					ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.H253fs|ABCC5_ENST00000492216.1_5'UTR	p.H253fs	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		6	997_998	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		253			ABC transmembrane type-1 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Frame_Shift_Ins	INS	ENST00000334444.6	37	c.757_758insG	CCDS43176.1																																																																																				0.515	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		10	310						10	310	---	---	---	---
FETUB	26998	broad.mit.edu	37	3	186370136	186370137	+	Frame_Shift_Ins	INS	-	-	C	rs540157028		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:186370136_186370137insC	ENST00000265029.3	+	7	966_967	c.865_866insC	c.(865-867)accfs	p.T289fs	FETUB_ENST00000382134.3_Frame_Shift_Ins_p.T224fs|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Frame_Shift_Ins_p.T289fs|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382136.3_Frame_Shift_Ins_p.T252fs|FETUB_ENST00000539949.1_Frame_Shift_Ins_p.T141fs	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	289					binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GCAGAAAAACACCCCCCCAACA	0.495																																						ENST00000265029.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20						c.(865-867)cccfs		fetuin B																																				SO:0001589	frameshift_variant	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186370136_186370137insC	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.872dupC	3.37:g.186370143_186370143dupC	ENSP00000265029:p.Thr289fs					RP11-134F2.2_ENST00000455926.1_RNA|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000539949.1_Frame_Shift_Ins_p.P141fs|FETUB_ENST00000382136.3_Frame_Shift_Ins_p.P252fs|FETUB_ENST00000382134.3_Frame_Shift_Ins_p.P224fs|FETUB_ENST00000450521.1_Frame_Shift_Ins_p.P289fs	p.P289fs	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	7	966_967	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		289					B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Frame_Shift_Ins	INS	ENST00000265029.3	37	c.865_866insC	CCDS3279.1																																																																																				0.495	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		20	291						20	291	---	---	---	---
SLC51A	200931	broad.mit.edu	37	3	195955037	195955038	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:195955037_195955038insG	ENST00000296327.5	+	5	623_624	c.414_415insG	c.(415-417)gggfs	p.G139fs		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	139					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	TGGAAGGCTTTGGGGGGAAGGA	0.614																																						ENST00000296327.5																			0											c.(412-417)ttggggfs		solute carrier family 51, alpha subunit																																				SO:0001589	frameshift_variant	200931							g.chr3:195955037_195955038insG		CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"""Solute carriers"""	29955	protein-coding gene	gene with protein product	"""organic solute transporter, alpha subunit"""	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.420dupG	3.37:g.195955043_195955043dupG	ENSP00000296327:p.Gly139fs						p.LG138fs	NM_152672.5	NP_689885.4					5	623_624	+								Q6ZMC7	Frame_Shift_Ins	INS	ENST00000296327.5	37	c.414_415insG	CCDS3314.1																																																																																				0.614	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		13	889						13	889	---	---	---	---
FAM193A	8603	broad.mit.edu	37	4	2661592	2661593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:2661592_2661593insC	ENST00000324666.5	+	8	1034_1035	c.683_684insC	c.(682-687)gaccccfs	p.DP228fs	FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.DP228fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.DP228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.DP252fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.DP228fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGTATCATGGACCCCCCCGTCA	0.525																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(682-684)gccfs		family with sequence similarity 193, member A																																				SO:0001589	frameshift_variant	8603							g.chr4:2661592_2661593insC	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.690dupC	4.37:g.2661599_2661599dupC	ENSP00000324587:p.Asp228fs					FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.A252fs	p.A228fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			8	1034_1035	+			228					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Frame_Shift_Ins	INS	ENST00000324666.5	37	c.683_684insC	CCDS58875.1																																																																																				0.525	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		8	464						8	464	---	---	---	---
ZBTB49	166793	broad.mit.edu	37	4	4304018	4304019	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:4304018_4304019insC	ENST00000337872.4	+	3	576_577	c.455_456insC	c.(454-459)taccccfs	p.YP152fs	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Frame_Shift_Ins_p.YP152fs	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	152					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						AGTGAAAACTACCCCCCTCATT	0.47																																						ENST00000337872.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						c.(454-456)tccfs		zinc finger and BTB domain containing 49																																				SO:0001589	frameshift_variant	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4304018_4304019insC	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.461dupC	4.37:g.4304024_4304024dupC	ENSP00000338807:p.Tyr152fs					ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Frame_Shift_Ins_p.S152fs	p.S152fs	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN			3	576_577	+			152					Q59FJ4|Q5EBN0|Q8TB80	Frame_Shift_Ins	INS	ENST00000337872.4	37	c.455_456insC	CCDS3375.1																																																																																				0.470	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		7	748						7	748	---	---	---	---
LGI2	55203	broad.mit.edu	37	4	25005320	25005321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:25005320_25005321insC	ENST00000382114.4	-	8	1575_1576	c.1390_1391insG	c.(1390-1392)gccfs	p.A464fs		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	464						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CAGGGTCATGGCCCCCCGGGAT	0.515																																						ENST00000382114.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33						c.(1390-1392)catfs		leucine-rich repeat LGI family, member 2																																				SO:0001589	frameshift_variant	55203					extracellular region		g.chr4:25005320_25005321insC	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1391dupG	4.37:g.25005326_25005326dupC	ENSP00000371548:p.Ala464fs						p.H464fs	NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN			8	1575_1576	-		Breast(46;0.173)	464					Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Frame_Shift_Ins	INS	ENST00000382114.4	37	c.1390_1391insG	CCDS3431.1																																																																																				0.515	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			8	410						8	410	---	---	---	---
KLF3	51274	broad.mit.edu	37	4	38691475	38691476	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:38691475_38691476insC	ENST00000261438.5	+	4	975_976	c.670_671insC	c.(670-672)tccfs	p.S224fs	KLF3_ENST00000514033.1_Frame_Shift_Ins_p.S224fs	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	224	Pro-rich.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						GAACTCAGTGTCCCCCCCGCAA	0.426																																						ENST00000261438.5																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						c.(670-672)cccfs		Kruppel-like factor 3 (basic)																																				SO:0001589	frameshift_variant	51274				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:38691475_38691476insC	AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16516	protein-coding gene	gene with protein product	"""basic Kruppel-like factor"""	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.677dupC	4.37:g.38691482_38691482dupC	ENSP00000261438:p.Ser224fs					KLF3_ENST00000514033.1_Frame_Shift_Ins_p.P224fs	p.P224fs	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN			4	975_976	+			224			Pro-rich.		Q6PIR1|Q86TN0|Q9P2X6	Frame_Shift_Ins	INS	ENST00000261438.5	37	c.670_671insC	CCDS3444.1																																																																																				0.426	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215093.2			13	239						13	239	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85611708	85611709	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:85611708_85611709delCA	ENST00000295888.4	-	61	9720_9721	c.9313_9314delTG	c.(9313-9315)tggfs	p.W3105fs	WDFY3_ENST00000322366.6_Frame_Shift_Del_p.W3088fs|RN7SL552P_ENST00000462094.2_RNA	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3105	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCCCATCTCCCACACACACACA	0.51																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(9262-9264)gfs		WD repeat and FYVE domain containing 3																																				SO:0001589	frameshift_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85611708_85611709delCA	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.9313_9314delTG	4.37:g.85611718_85611719delCA	ENSP00000295888:p.Trp3105fs					WDFY3_ENST00000295888.4_Frame_Shift_Del_p.W3105fs	p.W3088fs			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	60	9669_9670	-		Hepatocellular(203;0.114)	3105					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Frame_Shift_Del	DEL	ENST00000295888.4	37	c.9262_9263delTG	CCDS3609.1																																																																																				0.510	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		7	564						7	564	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)caafs	p.Q491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.Q510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(1471-1473)agafs		unc-5 homolog C (C. elegans)																																				SO:0001589	frameshift_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96140293_96140294insG	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1472dupC	4.37:g.96140299_96140299dupG	ENSP00000406022:p.Gln491fs					UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	p.R491fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	9	1819_1820	-		Hepatocellular(203;0.114)	491					Q8IUT0	Frame_Shift_Ins	INS	ENST00000453304.1	37	c.1471_1472insC	CCDS3643.1																																																																																				0.505	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		22	838						22	838	---	---	---	---
C4orf17	84103	broad.mit.edu	37	4	100443777	100443778	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:100443777_100443778insC	ENST00000326581.4	+	3	610_611	c.248_249insC	c.(247-252)taccccfs	p.YP83fs	C4orf17_ENST00000514652.1_Frame_Shift_Ins_p.YP83fs|C4orf17_ENST00000503257.1_3'UTR	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	83										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AATTGCAGTTACCCCTCCAGCA	0.5																																						ENST00000514652.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18						c.(247-249)tccfs		chromosome 4 open reading frame 17																																				SO:0001589	frameshift_variant	84103							g.chr4:100443777_100443778insC	AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813			25274	protein-coding gene	gene with protein product						11230166	Standard	NM_032149		Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	ENST00000326581.4:c.252dupC	4.37:g.100443781_100443781dupC	ENSP00000322582:p.Tyr83fs					C4orf17_ENST00000326581.4_Frame_Shift_Ins_p.S83fs|C4orf17_ENST00000503257.1_3'UTR	p.S83fs			Q53FE4	CD017_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)	3	602_603	+			83					Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Frame_Shift_Ins	INS	ENST00000326581.4	37	c.248_249insC	CCDS3649.1																																																																																				0.500	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2	NM_032149		16	312						16	312	---	---	---	---
EGF	1950	broad.mit.edu	37	4	110909773	110909774	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:110909773_110909774insC	ENST00000265171.5	+	18	3087_3088	c.2642_2643insC	c.(2641-2646)tgccccfs	p.CP881fs	EGF_ENST00000503392.1_Frame_Shift_Ins_p.CP881fs|EGF_ENST00000509793.1_Frame_Shift_Ins_p.CP839fs	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	881	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GTCCCAGTGTGCCCCCCTGCCT	0.47																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2641-2643)tccfs		epidermal growth factor	Sulindac(DB00605)																																			SO:0001589	frameshift_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110909773_110909774insC	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2648dupC	4.37:g.110909779_110909779dupC	ENSP00000265171:p.Cys881fs					EGF_ENST00000503392.1_Frame_Shift_Ins_p.S881fs|EGF_ENST00000509793.1_Frame_Shift_Ins_p.S839fs	p.S881fs	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	18	3087_3088	+		Hepatocellular(203;0.0893)	881			EGF-like 7; calcium-binding (Potential).		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Frame_Shift_Ins	INS	ENST00000265171.5	37	c.2642_2643insC	CCDS3689.1																																																																																				0.470	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			12	876						12	876	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126329664	126329665	+	Frame_Shift_Ins	INS	-	-	ATTT			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:126329664_126329665insATTT	ENST00000394329.3	+	4	5648_5649	c.5635_5636insATTT	c.(5635-5637)attfs	p.I1879fs	FAT4_ENST00000335110.5_Frame_Shift_Ins_p.I177fs	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1879	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AATTACATATATTGTGAATGAA	0.322																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(5635-5637)tgtfs		FAT atypical cadherin 4																																				SO:0001589	frameshift_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126329664_126329665insATTT	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	Exception_encountered	4.37:g.126329664_126329665insATTT	ENSP00000377862:p.Ile1879fs					FAT4_ENST00000335110.5_Frame_Shift_Ins_p.C177fs	p.C1879fs	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			4	5648_5649	+			1879			Cadherin 18.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Frame_Shift_Ins	INS	ENST00000394329.3	37	c.5635_5636insATTT	CCDS3732.3																																																																																				0.322	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		31	129						31	129	---	---	---	---
KIAA0922	23240	broad.mit.edu	37	4	154523863	154523863	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:154523863delA	ENST00000409663.3	+	23	2672	c.2620delA	c.(2620-2622)acgfs	p.T874fs	KIAA0922_ENST00000409959.3_Frame_Shift_Del_p.T875fs|KIAA0922_ENST00000440693.1_Frame_Shift_Del_p.T791fs	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	874						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TTGGAGGCTCACGGTCTTCTT	0.507																																						ENST00000409959.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2623-2625)cgfs		KIAA0922							161.0	160.0	160.0					4																	154523863		2203	4300	6503	SO:0001589	frameshift_variant	23240					integral to membrane		g.chr4:154523863delA	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.2620delA	4.37:g.154523863delA	ENSP00000386574:p.Thr874fs					KIAA0922_ENST00000409663.3_Frame_Shift_Del_p.T874fs|KIAA0922_ENST00000440693.1_Frame_Shift_Del_p.T791fs	p.T875fs	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN			23	2672	+	all_hematologic(180;0.093)	Renal(120;0.118)	874					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Frame_Shift_Del	DEL	ENST00000409663.3	37	c.2623delA	CCDS3783.2																																																																																				0.507	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		131	261						131	261	---	---	---	---
RNF175	285533	broad.mit.edu	37	4	154636583	154636583	+	Intron	DEL	T	T	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:154636583delT	ENST00000347063.4	-	7	1137				RNF175_ENST00000274068.4_Frame_Shift_Del_p.T160fs	NM_173662.2	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				GCATGGAAGGTAAGCAAGATG	0.488																																						ENST00000274068.4																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13						c.(478-480)ccfs		ring finger protein 175																																				SO:0001627	intron_variant	285533					integral to membrane	zinc ion binding	g.chr4:154636583delT	BC034385	CCDS47149.1	4q31.3	2008-02-05			ENSG00000145428	ENSG00000145428		"""RING-type (C3HC4) zinc fingers"""	27735	protein-coding gene	gene with protein product							Standard	NM_173662		Approved	FLJ34190	uc003int.3	Q8N4F7	OTTHUMG00000161557	ENST00000347063.4:c.764+97A>-	4.37:g.154636583delT						RNF175_ENST00000347063.4_Intron	p.T160fs			Q8N4F7	RN175_HUMAN			6	854	-	all_hematologic(180;0.093)	Renal(120;0.118)	0					C9JL66|Q8NB61	Frame_Shift_Del	DEL	ENST00000347063.4	37	c.478delA	CCDS47149.1																																																																																				0.488	RNF175-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365286.1	NM_173662		2	4						2	4	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183713572	183713573	+	Frame_Shift_Ins	INS	-	-	C	rs80197208	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:183713572_183713573insC	ENST00000511685.1	+	26	5870_5871	c.5747_5748insC	c.(5746-5751)aaccccfs	p.NP1916fs	TENM3_ENST00000406950.2_Frame_Shift_Ins_p.NP1916fs			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1916					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.E1919fs*37(1)									AACATATACAACCCCCCGGAAA	0.53																																						ENST00000511685.1																			1	Insertion - Frameshift(1)	p.E1919fs*37(1)	large_intestine(1)								c.(5746-5748)accfs		teneurin transmembrane protein 3																																				SO:0001589	frameshift_variant	55714							g.chr4:183713572_183713573insC	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5753dupC	4.37:g.183713578_183713578dupC	ENSP00000424226:p.Asn1916fs					TENM3_ENST00000406950.2_Frame_Shift_Ins_p.T1916fs	p.T1916fs							26	5870_5871	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Frame_Shift_Ins	INS	ENST00000511685.1	37	c.5747_5748insC	CCDS47165.1																																																																																				0.530	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			7	200						7	200	---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186515043	186515044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:186515043_186515044insC	ENST00000284776.7	-	19	3639_3640	c.3130_3131insG	c.(3130-3132)gaafs	p.E1044fs	RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000448662.2_Frame_Shift_Ins_p.E605fs|SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.E1144fs|SORBS2_ENST00000437304.2_Frame_Shift_Ins_p.E768fs|SORBS2_ENST00000319471.9_Frame_Shift_Ins_p.E675fs|SORBS2_ENST00000393528.3_Frame_Shift_Ins_p.E610fs|SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.E948fs|SORBS2_ENST00000449407.2_Frame_Shift_Ins_p.E588fs|SORBS2_ENST00000431808.1_Frame_Shift_Ins_p.E1044fs	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	1044	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.E1044fs*8(2)|p.E605fs*8(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TACTTACGGTTCCCCCCCACCT	0.356																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			4	Insertion - Frameshift(4)	p.E1044fs*8(2)|p.E605fs*8(2)	haematopoietic_and_lymphoid_tissue(4)	endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(3130-3132)accfs		sorbin and SH3 domain containing 2																																				SO:0001589	frameshift_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186515043_186515044insC		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.3131dupG	4.37:g.186515050_186515050dupC	ENSP00000284776:p.Glu1044fs					SORBS2_ENST00000448662.2_Frame_Shift_Ins_p.T605fs|SORBS2_ENST00000437304.2_Frame_Shift_Ins_p.T768fs|SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.T948fs|SORBS2_ENST00000319471.9_Frame_Shift_Ins_p.T675fs|RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.T1144fs|SORBS2_ENST00000449407.2_Frame_Shift_Ins_p.T588fs|SORBS2_ENST00000393528.3_Frame_Shift_Ins_p.T610fs|SORBS2_ENST00000284776.7_Frame_Shift_Ins_p.T1044fs	p.T1044fs			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	20	3693_3694	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	1044			SH3 3.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Frame_Shift_Ins	INS	ENST00000284776.7	37	c.3130_3131insG	CCDS3845.1																																																																																				0.356	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		11	199						11	199	---	---	---	---
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:186997804_186997805insG	ENST00000296795.3	+	2	135_136	c.31_32insG	c.(31-33)tggfs	p.W11fs		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	11					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATCTACTTTTGGGGGGGCCTT	0.446																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(31-33)gggfs		toll-like receptor 3																																				SO:0001589	frameshift_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:186997804_186997805insG	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.38dupG	4.37:g.186997811_186997811dupG	ENSP00000296795:p.Trp11fs						p.G11fs	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	2	135_136	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	11					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Frame_Shift_Ins	INS	ENST00000296795.3	37	c.31_32insG	CCDS3846.1																																																																																				0.446	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			15	342						15	342	---	---	---	---
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C	rs372345940		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggagcfs	p.S277fs	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Frame_Shift_Ins_p.S277fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96	GRCh37	CD982526	C6	D		c.(826-831)gggctcfs		complement component 6																																				SO:0001589	frameshift_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41181559_41181560insC	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.829dupG	5.37:g.41181566_41181566dupC	ENSP00000263413:p.Ser277fs					C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs|C6_ENST00000475349.1_5'UTR	p.L277fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			7	1092_1093	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	277			MACPF.			Frame_Shift_Ins	INS	ENST00000263413.3	37	c.828_829insG	CCDS3936.1																																																																																				0.376	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			7	130						7	130	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5898)agccccfs	p.SP1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(5893-5895)accfs		microtubule-associated protein 1B																																				SO:0001589	frameshift_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495076_71495077insC	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5901dupC	5.37:g.71495083_71495083dupC	ENSP00000296755:p.Ser1965fs						p.T1965fs	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6192_6193	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1965					A2BDK5	Frame_Shift_Ins	INS	ENST00000296755.7	37	c.5894_5895insC	CCDS4012.1																																																																																				0.485	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		22	330						22	330	---	---	---	---
SEMA6A	57556	broad.mit.edu	37	5	115782764	115782765	+	Frame_Shift_Ins	INS	-	-	G	rs569568718	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:115782764_115782765insG	ENST00000343348.6	-	19	3424_3425	c.2637_2638insC	c.(2635-2640)cccaaafs	p.K880fs	CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.K897fs|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.K307fs|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.K357fs|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.K259fs|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.K880fs	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	880					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTGGAACTTTGGGGGGCAGGC	0.604																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(2635-2640)ccaagtfs		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A																																				SO:0001589	frameshift_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115782764_115782765insG	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2638dupC	5.37:g.115782770_115782770dupG	ENSP00000345512:p.Lys880fs					SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.S357fs|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.S259fs|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.S880fs|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.S897fs|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.S307fs	p.S880fs	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	19	3424_3425	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	880					Q9P2H9	Frame_Shift_Ins	INS	ENST00000343348.6	37	c.2637_2638insC	CCDS47256.1																																																																																				0.604	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		7	420						7	420	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cctfs	p.P1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.P1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.P1623P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCTATTGACAGGGGGGCATGT	0.505																																						ENST00000508053.1																			2	Substitution - coding silent(2)	p.P1623P(2)	lung(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(4867-4869)cgtfs		fibrillin 2																																				SO:0001589	frameshift_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127648336_127648337insG	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4869dupC	5.37:g.127648342_127648342dupG	ENSP00000424571:p.Pro1623fs					FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs	p.R1623fs			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	43	5842_5843	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1623			TB 6.		B4DU01|Q59ES6	Frame_Shift_Ins	INS	ENST00000508053.1	37	c.4868_4869insC	CCDS34222.1																																																																																				0.505	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		7	757						7	757	---	---	---	---
TCF7	6932	broad.mit.edu	37	5	133473764	133473765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:133473764_133473765insC	ENST00000321584.4	+	4	652_653	c.456_457insC	c.(457-459)cccfs	p.P153fs	TCF7_ENST00000321603.6_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000395029.1_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.P38fs			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	153					alpha-beta T cell differentiation (GO:0046632)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cellular response to interleukin-4 (GO:0071353)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|generation of neurons (GO:0048699)|immune response (GO:0006955)|neural tube development (GO:0021915)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor V(D)J recombination (GO:0033153)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCCAATCAGCCCCCCCACGG	0.574																																						ENST00000395029.1																			0				kidney(2)|large_intestine(7)|lung(2)|skin(1)	12						c.(454-459)caccccfs		transcription factor 7 (T-cell specific, HMG-box)																																				SO:0001589	frameshift_variant	6932				cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding	g.chr5:133473764_133473765insC	Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059			11639	protein-coding gene	gene with protein product		189908					Standard	NM_003202		Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000321584.4:c.463dupC	5.37:g.133473771_133473771dupC	ENSP00000326540:p.Pro153fs					TCF7_ENST00000378564.1_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000321584.4_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.HP37fs	p.HP152fs			P36402	TCF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	651_652	+		Breast(839;0.058)	152					B3KSH3|Q86WR9|Q9UKI4	Frame_Shift_Ins	INS	ENST00000321584.4	37	c.456_457insC																																																																																					0.574	TCF7-201	KNOWN	basic	protein_coding	protein_coding		NM_201634		14	492						14	492	---	---	---	---
EGR1	1958	broad.mit.edu	37	5	137803131	137803132	+	Frame_Shift_Ins	INS	-	-	C	rs148475837		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:137803131_137803132insC	ENST00000239938.4	+	2	1265_1266	c.993_994insC	c.(994-996)cccfs	p.P332fs		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	332					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCAGCAAGACGCCCCCCCACGA	0.649																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(991-996)acccccfs		early growth response 1																																				SO:0001589	frameshift_variant	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137803131_137803132insC	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1000dupC	5.37:g.137803138_137803138dupC	ENSP00000239938:p.Pro332fs						p.TP331fs	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	1265_1266	+			331						Frame_Shift_Ins	INS	ENST00000239938.4	37	c.993_994insC	CCDS4206.1																																																																																				0.649	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		7	131						7	131	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)gggaggfs	p.R763fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.R425fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.R665fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2284-2289)ggggatfs		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3																																				SO:0001589	frameshift_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141049341_141049342insC	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2287dupG	5.37:g.141049347_141049347dupC	ENSP00000239440:p.Arg763fs					ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs	p.D763fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			16	2351_2352	-			763					B4DIT1|D3DQE3	Frame_Shift_Ins	INS	ENST00000239440.4	37	c.2286_2287insG	CCDS4266.1																																																																																				0.579	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		7	849						7	849	---	---	---	---
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G	rs199646351		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:141336747_141336748insG	ENST00000231484.3	-	1	1879_1880	c.669_670insC	c.(667-672)cccaagfs	p.K224fs	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	224	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTCC	0.48																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(667-672)ccagtcfs		protocadherin 12				5,4259		0,5,2127						5.1	1.0			79	6,8238		0,6,4116	no	frameshift	PCDH12	NM_016580.2		0,11,6243	A1A1,A1R,RR		0.0728,0.1173,0.0879				11,12497				SO:0001589	frameshift_variant	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336747_141336748insG	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.670dupC	5.37:g.141336754_141336754dupG	ENSP00000231484:p.Lys224fs						p.V224fs	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1879_1880	-		all_hematologic(541;0.0999)	224			Cadherin 2.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Frame_Shift_Ins	INS	ENST00000231484.3	37	c.669_670insC	CCDS4269.1																																																																																				0.480	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		16	368						16	368	---	---	---	---
SPRY4	81848	broad.mit.edu	37	5	141694153	141694154	+	Frame_Shift_Ins	INS	-	-	G	rs369403370|rs144353509		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:141694153_141694154insG	ENST00000434127.2	-	2	763_764	c.520_521insC	c.(520-522)cggfs	p.R174fs	SPRY4_ENST00000503582.1_5'Flank|SPRY4_ENST00000344120.4_Frame_Shift_Ins_p.R197fs	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	174	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCAACGTCCGGGGGGATGCA	0.609									Testicular Cancer, Familial Clustering of																													ENST00000344120.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18						c.(589-591)gacfs		sprouty homolog 4 (Drosophila)																																				SO:0001589	frameshift_variant	81848	Testicular Cancer, Familial Clustering of	Familial Cancer Database		multicellular organismal development	cytoplasm|ruffle membrane	protein binding	g.chr5:141694153_141694154insG	AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.521dupC	5.37:g.141694159_141694159dupG	ENSP00000399468:p.Arg174fs					SPRY4_ENST00000434127.2_Frame_Shift_Ins_p.D174fs	p.D197fs	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	775_776	-		all_hematologic(541;0.118)	174			Cys-rich.|SPR.		A4FVB2|A4FVB3|Q6QIX2|Q9C003	Frame_Shift_Ins	INS	ENST00000434127.2	37	c.589_590insC	CCDS47296.1																																																																																				0.609	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			7	581						7	581	---	---	---	---
LARS	51520	broad.mit.edu	37	5	145523013	145523014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:145523013_145523014insC	ENST00000394434.2	-	19	2004_2005	c.1838_1839insG	c.(1837-1839)ggtfs	p.G613fs	LARS_ENST00000510191.1_Frame_Shift_Ins_p.G559fs|LARS_ENST00000274562.9_Frame_Shift_Ins_p.G586fs|LARS_ENST00000545646.1_Frame_Shift_Ins_p.G567fs	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	613					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CATGCAAGTTACCCCCCTGCAA	0.45																																						ENST00000394434.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34						c.(1837-1839)gaafs		leucyl-tRNA synthetase	L-Leucine(DB00149)																																			SO:0001589	frameshift_variant	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145523013_145523014insC	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1839dupG	5.37:g.145523019_145523019dupC	ENSP00000377954:p.Gly613fs					LARS_ENST00000510191.1_Frame_Shift_Ins_p.E559fs|LARS_ENST00000545646.1_Frame_Shift_Ins_p.E567fs|LARS_ENST00000274562.9_Frame_Shift_Ins_p.E586fs	p.E613fs	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	2004_2005	-			613					A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Frame_Shift_Ins	INS	ENST00000394434.2	37	c.1838_1839insG	CCDS34265.1																																																																																				0.450	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		8	849						8	849	---	---	---	---
CSF1R	1436	broad.mit.edu	37	5	149460475	149460476	+	Frame_Shift_Ins	INS	-	-	G	rs139516059		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:149460475_149460476insG	ENST00000286301.3	-	3	452_453	c.161_162insC	c.(160-162)ccafs	p.P54fs	CSF1R_ENST00000543093.1_Frame_Shift_Ins_p.P54fs	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	54	Ig-like C2-type 1.			P -> A (in Ref. 2; CAA27300). {ECO:0000305}.	cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	AGTGAGGTGATGGGGGGCCATC	0.594																																						ENST00000286301.3																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93						c.(160-162)ctcfs		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)																																			SO:0001589	frameshift_variant	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149460475_149460476insG	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.162dupC	5.37:g.149460481_149460481dupG	ENSP00000286301:p.Pro54fs					CSF1R_ENST00000543093.1_Frame_Shift_Ins_p.L54fs	p.L54fs	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	452_453	-			54	P -> A (in Ref. 2; CAA27300).		Ig-like C2-type 1.		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Frame_Shift_Ins	INS	ENST00000286301.3	37	c.161_162insC	CCDS4302.1																																																																																				0.594	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		9	256						9	256	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150905451	150905452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:150905451_150905452insG	ENST00000261800.5	-	17	10395_10396	c.10383_10384insC	c.(10381-10386)ccctacfs	p.Y3462fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3462	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGAAACGAGTAGGGGGGGCCAT	0.584																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(10381-10386)ccactcfs		FAT atypical cadherin 2																																				SO:0001589	frameshift_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150905451_150905452insG	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.10384dupC	5.37:g.150905458_150905458dupG	ENSP00000261800:p.Tyr3462fs						p.L3462fs	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		17	10395_10396	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3462			Cadherin 31.		O75091|Q9NSR7	Frame_Shift_Ins	INS	ENST00000261800.5	37	c.10383_10384insC	CCDS4317.1																																																																																				0.584	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		8	186						8	186	---	---	---	---
LARP1	23367	broad.mit.edu	37	5	154181821	154181822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:154181821_154181822insG	ENST00000336314.4	+	11	1764_1765	c.1740_1741insG	c.(1741-1743)gggfs	p.G581fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	658					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCGGCACCCAGGGGGGGACCG	0.55																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1738-1743)ccggggfs		La ribonucleoprotein domain family, member 1																																				SO:0001589	frameshift_variant	23367						protein binding|RNA binding	g.chr5:154181821_154181822insG	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1747dupG	5.37:g.154181828_154181828dupG	ENSP00000336721:p.Gly581fs						p.PG580fs	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		11	1764_1765	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	657					O94836|Q8N4M2|Q8NB73|Q9UFD7	Frame_Shift_Ins	INS	ENST00000336314.4	37	c.1740_1741insG	CCDS4328.1																																																																																				0.550	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		14	393						14	393	---	---	---	---
FNDC9	408263	broad.mit.edu	37	5	156769909	156769910	+	Frame_Shift_Ins	INS	-	-	C	rs200489390		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:156769909_156769910insC	ENST00000312349.4	-	2	822_823	c.635_636insG	c.(634-636)ggtfs	p.G212fs	CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000541131.1_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	212						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GTGGGTCACCACCCCCCCTCTG	0.584											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000312349.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(634-636)gggfs		fibronectin type III domain containing 9																																				SO:0001589	frameshift_variant	408263					integral to membrane		g.chr5:156769909_156769910insC	BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568		"""Fibronectin type III domain containing"""	33547	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 40"""	C5orf40			Standard	NM_001001343		Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248	ENST00000312349.4:c.636dupG	5.37:g.156769916_156769916dupC	ENSP00000310594:p.Gly212fs		OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1781	CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000541131.1_Intron	p.G212fs	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN			2	822_823	-			212					A8K0Y6	Frame_Shift_Ins	INS	ENST00000312349.4	37	c.635_636insG	CCDS4337.1																																																																																				0.584	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252573.2	NM_001001343		7	147						7	147	---	---	---	---
STK10	6793	broad.mit.edu	37	5	171517344	171517345	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:171517344_171517345insT	ENST00000176763.5	-	10	1919_1920	c.1576_1577insA	c.(1576-1578)accfs	p.T526fs	STK10_ENST00000517775.1_5'Flank	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	526					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGCTTGAGGGTTTTTTTGTAC	0.515																																						ENST00000176763.5																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(1576-1578)cctfs		serine/threonine kinase 10				2,4262		0,2,2130						4.6	1.0		dbSNP_131	210	0,8254		0,0,4127	no	frameshift	STK10	NM_005990.3		0,2,6257	A1A1,A1R,RR		0.0,0.0469,0.016				2,12516				SO:0001589	frameshift_variant	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171517344_171517345insT	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1577dupA	5.37:g.171517351_171517351dupT	ENSP00000176763:p.Thr526fs						p.P526fs	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		10	1919_1920	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	526					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Frame_Shift_Ins	INS	ENST00000176763.5	37	c.1576_1577insA	CCDS34290.1																																																																																				0.515	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		15	1078						15	1078	---	---	---	---
KIAA1191	57179	broad.mit.edu	37	5	175774701	175774702	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:175774701_175774702insG	ENST00000298569.4	-	9	1352_1353	c.819_820insC	c.(817-822)cccaagfs	p.K274fs	KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.K255fs|KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.K274fs|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393728.2_5'UTR	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	274						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		ATGTCCATCTTGGGGGGCTTCA	0.579																																						ENST00000298569.4																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(817-822)ccagatfs		KIAA1191																																				SO:0001589	frameshift_variant	57179						protein binding	g.chr5:175774701_175774702insG	BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.820dupC	5.37:g.175774707_175774707dupG	ENSP00000298569:p.Lys274fs					KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.D274fs|KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.D255fs	p.D274fs	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)	9	1352_1353	-	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	274					B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Frame_Shift_Ins	INS	ENST00000298569.4	37	c.819_820insC	CCDS4399.1																																																																																				0.579	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253146.2	NM_020444		10	847						10	847	---	---	---	---
TRIM7	81786	broad.mit.edu	37	5	180630518	180630519	+	Intron	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:180630518_180630519insG	ENST00000274773.7	-	2	680				CTC-338M12.1_ENST00000503314.1_RNA|CTC-338M12.6_ENST00000511517.1_RNA|CTC-338M12.6_ENST00000509080.1_RNA|CTC-338M12.6_ENST00000514784.1_RNA|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000393319.3_5'Flank|TRIM7_ENST00000361809.3_Intron|TRIM7_ENST00000422067.2_5'UTR|TRIM7_ENST00000334421.5_Frame_Shift_Ins_p.P215fs|TRIM7_ENST00000393315.1_Intron|CTC-338M12.6_ENST00000419707.2_RNA	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7							cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		TAATGTCCCACGGGGGGCCTGC	0.559																																					Esophageal Squamous(128;2258 2308 35507 48647)	ENST00000334421.5																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17						c.(643-645)ctgfs		tripartite motif containing 7																																				SO:0001627	intron_variant	81786					cytoplasm|nucleus	zinc ion binding	g.chr5:180630518_180630519insG	AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16278	protein-coding gene	gene with protein product	"""glycogenin-interacting protein"", ""tripartite motif protein TRIM7"""	609315	"""tripartite motif-containing 7"""			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.618+25->C	5.37:g.180630524_180630524dupG						TRIM7_ENST00000361809.3_Intron|TRIM7_ENST00000274773.7_Intron|TRIM7_ENST00000422067.2_5'UTR|TRIM7_ENST00000393315.1_Intron	p.L215fs	NM_033342.2	NP_203128.1	Q9C029	TRIM7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)	2	826_827	-	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	0					A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Frame_Shift_Ins	INS	ENST00000274773.7	37	c.644_645insC	CCDS4462.1																																																																																				0.559	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	NM_203296		8	383						8	383	---	---	---	---
EXOC2	55770	broad.mit.edu	37	6	637793	637794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:637793_637794insG	ENST00000230449.4	-	2	160_161	c.25_26insC	c.(25-27)cttfs	p.L9fs	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	9	IPT/TIG.				cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GCCGGTCACAAGGGGGGGTTGT	0.485																																						ENST00000230449.4																			1	Deletion - Frameshift(1)	p.Q6fs*28(1)	ovary(1)	breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(25-27)tgtfs		exocyst complex component 2																																				SO:0001589	frameshift_variant	55770				exocytosis|protein transport			g.chr6:637793_637794insG	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.26dupC	6.37:g.637800_637800dupG	ENSP00000230449:p.Leu9fs					EXOC2_ENST00000448181.3_Intron	p.C9fs	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	2	160_161	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	9			IPT/TIG.		B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Frame_Shift_Ins	INS	ENST00000230449.4	37	c.25_26insC	CCDS34327.1																																																																																				0.485	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		16	603						16	603	---	---	---	---
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Intron	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:10557409_10557410insC	ENST00000379597.3	+	1	1481				GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000316170.3_Frame_Shift_Ins_p.P252fs			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGAAACCGCCTCCCCCCCATAA	0.485																																						ENST00000316170.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(751-756)ccccccfs		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)																																				SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10557409_10557410insC	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+27340->C	6.37:g.10557416_10557416dupC						GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron	p.PP251fs	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	1170_1171	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	253						Frame_Shift_Ins	INS	ENST00000379597.3	37	c.753_754insC	CCDS34338.1																																																																																				0.485	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		25	286						25	286	---	---	---	---
HIVEP1	3096	broad.mit.edu	37	6	12121132	12121133	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:12121132_12121133insC	ENST00000379388.2	+	4	1436_1437	c.1104_1105insC	c.(1105-1107)cccfs	p.P369fs		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	369					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTACACAGTCGCCCCCCATGCC	0.421																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(1102-1107)tcccccfs		human immunodeficiency virus type I enhancer binding protein 1																																				SO:0001589	frameshift_variant	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12121132_12121133insC	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.1110dupC	6.37:g.12121138_12121138dupC	ENSP00000368698:p.Pro369fs						p.SP368fs	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	1436_1437	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	368					B2RTU3|Q14122|Q5MPB1|Q5VW60	Frame_Shift_Ins	INS	ENST00000379388.2	37	c.1104_1105insC	CCDS43426.1																																																																																				0.421	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		7	607						7	607	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13185110	13185111	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:13185110_13185111insC	ENST00000379345.2	+	5	550_551	c.309_310insC	c.(310-312)cccfs	p.P104fs	PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000457702.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	43					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCCTGCTACTGCCCCCCAAAAA	0.584																																						ENST00000379345.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(307-312)ctccccfs		phosphatase and actin regulator 1																																				SO:0001589	frameshift_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13185110_13185111insC	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379345.2:c.315dupC	6.37:g.13185116_13185116dupC	ENSP00000368650:p.Pro104fs					PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000379350.1_Intron	p.LP103fs			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		5	550_551	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	237					A8K1V2|Q3MJ93|Q5JSJ2	Frame_Shift_Ins	INS	ENST00000379345.2	37	c.309_310insC																																																																																					0.584	PHACTR1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166420		7	340						7	340	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-756)gtggggfs	p.VG251fs	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.VG251fs|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.VG106fs			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(751-753)gggfs		phosphatase and actin regulator 1																																				SO:0001589	frameshift_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13206134_13206135insG	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.759dupG	6.37:g.13206141_13206141dupG	ENSP00000368655:p.Val251fs					PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000379345.2_Intron	p.G251fs			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		7	881_882	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	251					A8K1V2|Q3MJ93|Q5JSJ2	Frame_Shift_Ins	INS	ENST00000379350.1	37	c.752_753insG																																																																																					0.599	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		18	247						18	247	---	---	---	---
KIF13A	63971	broad.mit.edu	37	6	17837307	17837308	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:17837307_17837308insC	ENST00000259711.6	-	11	1061_1062	c.956_957insG	c.(955-957)ggcfs	p.G319fs	KIF13A_ENST00000378816.5_Frame_Shift_Ins_p.G319fs|KIF13A_ENST00000378826.2_Frame_Shift_Ins_p.G319fs|KIF13A_ENST00000378843.2_Frame_Shift_Ins_p.G319fs|KIF13A_ENST00000378814.5_Frame_Shift_Ins_p.G319fs	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	319	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTTGGCTGTTGCCCCCCAAGTT	0.45																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(955-957)gaafs		kinesin family member 13A																																				SO:0001589	frameshift_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17837307_17837308insC	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.957dupG	6.37:g.17837313_17837313dupC	ENSP00000259711:p.Gly319fs					KIF13A_ENST00000378816.5_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378843.2_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378826.2_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000259711.6_Frame_Shift_Ins_p.E319fs	p.E319fs	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		11	955_956	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	319					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Frame_Shift_Ins	INS	ENST00000259711.6	37	c.956_957insG	CCDS47381.1																																																																																				0.450	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			7	260						7	260	---	---	---	---
NRSN1	140767	broad.mit.edu	37	6	24145844	24145845	+	Frame_Shift_Ins	INS	-	-	C	rs577436927		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:24145844_24145845insC	ENST00000378491.4	+	4	559_560	c.258_259insC	c.(259-261)cccfs	p.P87fs		NM_080723.4	NP_542454.3			neurensin 1											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GCTTTCTTGTGCCCCCCAAAAT	0.485																																						ENST00000378491.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						c.(256-261)gtccccfs		neurensin 1																																				SO:0001589	frameshift_variant	140767				nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		g.chr6:24145844_24145845insC	AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.264dupC	6.37:g.24145850_24145850dupC	ENSP00000367752:p.Pro87fs						p.VP86fs	NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN			4	559_560	+			86						Frame_Shift_Ins	INS	ENST00000378491.4	37	c.258_259insC	CCDS4549.1																																																																																				0.485	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	NM_080723		11	245						11	245	---	---	---	---
KIAA0319	9856	broad.mit.edu	37	6	24601319	24601320	+	Frame_Shift_Ins	INS	-	-	G	rs376133611		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:24601319_24601320insG	ENST00000378214.3	-	2	536_537	c.12_13insC	c.(10-15)cccacafs	p.T5fs	KIAA0319_ENST00000430948.2_Intron|KIAA0319_ENST00000535378.1_5'UTR|KIAA0319_ENST00000543707.1_Frame_Shift_Ins_p.T5fs|KIAA0319_ENST00000537886.1_Frame_Shift_Ins_p.T5fs	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	5					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGCACACCTGTGGGGGGCGCCA	0.525																																						ENST00000378214.3																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(10-15)cccaggfs		KIAA0319																																				SO:0001589	frameshift_variant	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24601319_24601320insG	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.13dupC	6.37:g.24601325_24601325dupG	ENSP00000367459:p.Thr5fs					KIAA0319_ENST00000543707.1_Frame_Shift_Ins_p.R5fs|KIAA0319_ENST00000430948.2_Intron|KIAA0319_ENST00000535378.1_5'UTR|KIAA0319_ENST00000537886.1_Frame_Shift_Ins_p.R5fs	p.R5fs	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN			2	536_537	-			5					A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Frame_Shift_Ins	INS	ENST00000378214.3	37	c.12_13insC	CCDS34348.1																																																																																				0.525	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		8	428						8	428	---	---	---	---
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:29627216_29627217insC	ENST00000376917.3	+	2	438_439	c.209_210insC	c.(208-213)cgccccfs	p.RP70fs	MOG_ENST00000483013.1_Intron|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000490427.1_Intron|MOG_ENST00000533330.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000396704.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376898.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000396701.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000431798.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376894.4_Frame_Shift_Ins_p.RP70fs	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	70	Ig-like V-type.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F73fs*29(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGGTGGTACCGCCCCCCCTTCT	0.569																																						ENST00000376894.4																			1	Deletion - Frameshift(1)	p.F73fs*29(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						c.(208-210)cccfs		myelin oligodendrocyte glycoprotein																																				SO:0001589	frameshift_variant	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29627216_29627217insC		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.216dupC	6.37:g.29627223_29627223dupC	ENSP00000366115:p.Arg70fs					MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000490427.1_Intron	p.P70fs			Q16653	MOG_HUMAN			2	327_328	+			70			Ig-like V-type.		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Frame_Shift_Ins	INS	ENST00000376917.3	37	c.209_210insC	CCDS34370.1																																																																																				0.569	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		13	460						13	460	---	---	---	---
DDX39B	7919	broad.mit.edu	37	6	31504445	31504446	+	Frame_Shift_Ins	INS	-	-	A	rs75750725		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:31504445_31504446insA	ENST00000396172.1	-	5	1077_1078	c.447_448insT	c.(445-450)tttggtfs	p.G150fs	DDX39B_ENST00000376177.2_Frame_Shift_Ins_p.G150fs|DDX39B_ENST00000458640.1_Frame_Shift_Ins_p.G150fs|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000453105.2_Frame_Shift_Ins_p.G103fs|SNORD117_ENST00000364915.1_RNA|DDX39B_ENST00000415382.2_Frame_Shift_Ins_p.G72fs|DDX39B_ENST00000417556.2_Frame_Shift_Ins_p.G165fs|DDX39B_ENST00000449074.2_3'UTR	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	150	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GACAGACCACCAAAAAAAACAG	0.51																																						ENST00000417556.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(490-495)ttgtggfs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B																																				SO:0001589	frameshift_variant	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31504445_31504446insA	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.448dupT	6.37:g.31504453_31504453dupA	ENSP00000379475:p.Gly150fs					DDX39B_ENST00000376177.2_Frame_Shift_Ins_p.LW149fs|DDX39B_ENST00000415382.2_Frame_Shift_Ins_p.LW71fs|DDX39B_ENST00000396172.1_Frame_Shift_Ins_p.LW149fs|DDX39B_ENST00000453105.2_Frame_Shift_Ins_p.LW102fs|DDX39B_ENST00000458640.1_Frame_Shift_Ins_p.LW149fs|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000449074.2_3'UTR	p.LW164fs			Q13838	DX39B_HUMAN			6	1122_1123	-			149			Helicase ATP-binding.		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Frame_Shift_Ins	INS	ENST00000396172.1	37	c.492_493insT	CCDS4697.1																																																																																				0.510	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640		9	335						9	335	---	---	---	---
BAG6	7917	broad.mit.edu	37	6	31608570	31608571	+	Splice_Site	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:31608570_31608571insG	ENST00000375964.6	-	20	3155_3156	c.2842_2843insC	c.(2842-2844)cag>cCag	p.Q948fs	BAG6_ENST00000211379.5_Splice_Site_p.Q942fs|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000375976.4_Splice_Site_p.Q942fs|BAG6_ENST00000439687.2_Splice_Site_p.Q816fs|BAG6_ENST00000404765.2_Splice_Site_p.Q978fs|BAG6_ENST00000362049.6_Splice_Site_p.Q942fs	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	948					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GTCCCTTACCTGGGGGGGATCA	0.535																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.e21+1		BCL2-associated athanogene 6																																				SO:0001630	splice_region_variant	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31608570_31608571insG	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.2844+1->C	6.37:g.31608577_31608577dupG						BAG6_ENST00000439687.2_Splice_Site_p.A816_splice|BAG6_ENST00000362049.6_Splice_Site_p.A942_splice|BAG6_ENST00000375964.6_Splice_Site_p.A948_splice|BAG6_ENST00000375976.4_Splice_Site_p.A942_splice|BAG6_ENST00000211379.5_Splice_Site_p.A942_splice	p.A978_splice			P46379	BAG6_HUMAN			21	3221_3222	-			948					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Splice_Site	INS	ENST00000375964.6	37	c.2934_splice	CCDS47403.1																																																																																				0.535	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703	Frame_Shift_Ins	12	381						12	381	---	---	---	---
BAG6	7917	broad.mit.edu	37	6	31617054	31617055	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:31617054_31617055insG	ENST00000375964.6	-	4	657_658	c.344_345insC	c.(343-345)cctfs	p.P115fs	BAG6_ENST00000211379.5_Frame_Shift_Ins_p.P115fs|BAG6_ENST00000375976.4_Frame_Shift_Ins_p.P115fs|BAG6_ENST00000439687.2_Frame_Shift_Ins_p.P115fs|BAG6_ENST00000404765.2_Frame_Shift_Ins_p.P115fs|BAG6_ENST00000362049.6_Frame_Shift_Ins_p.P115fs	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	115					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)	p.P115fs*53(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CCCGAGTACCAGGGGGGGATCC	0.594																																						ENST00000404765.2																			1	Deletion - Frameshift(1)	p.P115fs*53(1)	lung(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(343-345)cggfs		BCL2-associated athanogene 6																																				SO:0001589	frameshift_variant	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31617054_31617055insG	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.345dupC	6.37:g.31617061_31617061dupG	ENSP00000365131:p.Pro115fs					BAG6_ENST00000439687.2_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000362049.6_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000375964.6_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000375976.4_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000211379.5_Frame_Shift_Ins_p.R115fs	p.R115fs			P46379	BAG6_HUMAN			4	633_634	-			115					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Frame_Shift_Ins	INS	ENST00000375964.6	37	c.344_345insC	CCDS47403.1																																																																																				0.594	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		7	229						7	229	---	---	---	---
LY6G6C	80740	broad.mit.edu	37	6	31692528	31692529	+	5'Flank	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:31692528_31692529insC	ENST00000375819.2	-	0	0				C6orf25_ENST00000375809.3_Frame_Shift_Ins_p.S183fs|C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.S183fs|DDAH2_ENST00000480913.1_5'Flank|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.P153fs	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						TTCAGCTCTGTCCCCCCCACAT	0.579																																						ENST00000375809.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						c.(547-549)cccfs		chromosome 6 open reading frame 25			,,,,,	3,4261		0,3,2129					,,,,,	1.1	1.0			67	4,8248		0,4,4122	no	frameshift,intron,frameshift,frameshift,intron,frameshift	C6orf25	NM_138277.2,NM_138275.2,NM_138274.2,NM_138273.2,NM_138272.2,NM_025260.3	,,,,,	0,7,6251	A1A1,A1R,RR		0.0485,0.0704,0.0559	,,,,,	,,,,,		7,12509				SO:0001631	upstream_gene_variant	80739					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity	g.chr6:31692528_31692529insC		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31692535_31692535dupC	Exception_encountered					C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs	p.P183fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN			5	558_559	+			0					Q5SRS8|Q8IY94	Frame_Shift_Ins	INS	ENST00000375819.2	37	c.547_548insC	CCDS4714.1																																																																																				0.579	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2			16	264						16	264	---	---	---	---
FKBPL	63943	broad.mit.edu	37	6	32097085	32097086	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:32097085_32097086insC	ENST00000375156.3	-	2	742_743	c.472_473insG	c.(472-474)gagfs	p.E158fs	ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375201.4_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	158					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										CTCTATGAGCTCCCCCCAAGTT	0.589																																						ENST00000375156.3																			0											c.(472-474)gctfs		FK506 binding protein like																																				SO:0001589	frameshift_variant	63943				response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:32097085_32097086insC	AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"""Tetratricopeptide (TTC) repeat domain containing"""	13949	protein-coding gene	gene with protein product	"""WAF-1/CIP1 stabilizing protein 39"""		"""FK506-binding protein like"""			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.473dupG	6.37:g.32097091_32097091dupC	ENSP00000364298:p.Glu158fs						p.A158fs	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN			2	742_743	-			158					A8K5V3|B0UYX8|Q9H5G3	Frame_Shift_Ins	INS	ENST00000375156.3	37	c.472_473insG	CCDS4738.1																																																																																				0.589	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			9	265						9	265	---	---	---	---
STK38	11329	broad.mit.edu	37	6	36463592	36463593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:36463592_36463593insC	ENST00000229812.7	-	14	1651_1652	c.1366_1367insG	c.(1366-1368)gcafs	p.A456fs		NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGAAGGTATTGCCCCCCTTGCA	0.455																																					Colon(180;997 3561 16158)	ENST00000229812.7																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1366-1368)aatfs		serine/threonine kinase 38																																				SO:0001589	frameshift_variant	11329				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity	g.chr6:36463592_36463593insC		CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.1367dupG	6.37:g.36463598_36463598dupC	ENSP00000229812:p.Ala456fs						p.N456fs	NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN			14	1651_1652	-			456						Frame_Shift_Ins	INS	ENST00000229812.7	37	c.1366_1367insG	CCDS4822.1																																																																																				0.455	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1	NM_007271		7	524						7	524	---	---	---	---
MOCS1	4337	broad.mit.edu	37	6	39874149	39874150	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:39874149_39874150insC	ENST00000340692.5	-	11	1897_1898	c.1894_1895insG	c.(1894-1896)gacfs	p.D632fs	MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000373195.3_Frame_Shift_Ins_p.D529fs|MOCS1_ENST00000308559.7_Frame_Shift_Ins_p.D616fs|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000425303.2_Frame_Shift_Ins_p.D632fs			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	632	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCGATGGAAGTCCCCCCGCTGA	0.579																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	ENST00000308559.7																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21						c.(1846-1848)cttfs		molybdenum cofactor synthesis 1																																				SO:0001589	frameshift_variant	4337				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39874149_39874150insC	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.1895dupG	6.37:g.39874155_39874155dupC	ENSP00000344794:p.Asp632fs					MOCS1_ENST00000373195.3_Frame_Shift_Ins_p.L529fs|MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000340692.5_Frame_Shift_Ins_p.L632fs|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000425303.2_Frame_Shift_Ins_p.L632fs|MOCS1_ENST00000373186.4_3'UTR	p.L616fs			Q9NZB8	MOCS1_HUMAN			10	1979_1980	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		632			Molybdenum cofactor biosynthesis protein C.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Frame_Shift_Ins	INS	ENST00000340692.5	37	c.1846_1847insG																																																																																					0.579	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		19	2286						19	2286	---	---	---	---
LRFN2	57497	broad.mit.edu	37	6	40399587	40399588	+	Frame_Shift_Ins	INS	-	-	G	rs374295744|rs201054196		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:40399587_40399588insG	ENST00000338305.6	-	2	1807_1808	c.1265_1266insC	c.(1264-1266)ccgfs	p.P422fs		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	422	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAGCCCGTTCCGGGGGGCTTTT	0.639																																						ENST00000338305.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1264-1266)cgafs		leucine rich repeat and fibronectin type III domain containing 2																																				SO:0001589	frameshift_variant	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40399587_40399588insG	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1266dupC	6.37:g.40399593_40399593dupG	ENSP00000345985:p.Pro422fs						p.R422fs	NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN			2	1807_1808	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		422			Fibronectin type-III.		A5PKU3|Q5SYP9	Frame_Shift_Ins	INS	ENST00000338305.6	37	c.1265_1266insC	CCDS34443.1																																																																																				0.639	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		16	655						16	655	---	---	---	---
GLTSCR1L	23506	broad.mit.edu	37	6	42819857	42819858	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:42819857_42819858insC	ENST00000314073.5	+	7	2043_2044	c.1867_1868insC	c.(1867-1869)tccfs	p.S623fs	GLTSCR1L_ENST00000394168.1_Frame_Shift_Ins_p.S623fs			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	623																	GAATCAGACTTCCCCCATTTCT	0.441																																						ENST00000314073.5																			0											c.(1867-1869)cccfs		GLTSCR1-like																																				SO:0001589	frameshift_variant	23506							g.chr6:42819857_42819858insC	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.1872dupC	6.37:g.42819862_42819862dupC	ENSP00000313933:p.Ser623fs					GLTSCR1L_ENST00000394168.1_Frame_Shift_Ins_p.P623fs	p.P623fs							7	2043_2044	+								A1L3W2|Q5TFZ3|Q92514	Frame_Shift_Ins	INS	ENST00000314073.5	37	c.1867_1868insC	CCDS34451.1																																																																																				0.441	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		9	1693						9	1693	---	---	---	---
PEX6	5190	broad.mit.edu	37	6	42936675	42936676	+	Frame_Shift_Ins	INS	-	-	G	rs267608219		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:42936675_42936676insG	ENST00000304611.8	-	6	1484_1485	c.1415_1416insC	c.(1414-1416)ccafs	p.P472fs	PEX6_ENST00000244546.4_Frame_Shift_Ins_p.P472fs	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	472					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TCCCACAGCCTGGGGGGCCCCG	0.55																																						ENST00000304611.8																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15	GRCh37	CI065845	PEX6	I		c.(1414-1416)cggfs		peroxisomal biogenesis factor 6																																				SO:0001589	frameshift_variant	5190				protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr6:42936675_42936676insG	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.1416dupC	6.37:g.42936681_42936681dupG	ENSP00000303511:p.Pro472fs					PEX6_ENST00000244546.4_Frame_Shift_Ins_p.R472fs	p.R472fs	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)		6	1484_1485	-			472					Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Frame_Shift_Ins	INS	ENST00000304611.8	37	c.1415_1416insC	CCDS4877.1																																																																																				0.550	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		9	1099						9	1099	---	---	---	---
PPP2R5D	5528	broad.mit.edu	37	6	42974287	42974288	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:42974287_42974288insC	ENST00000485511.1	+	3	371_372	c.192_193insC	c.(193-195)cccfs	p.P65fs	PPP2R5D_ENST00000461010.1_Intron|PPP2R5D_ENST00000472118.1_Frame_Shift_Ins_p.P57fs|PPP2R5D_ENST00000394110.3_Frame_Shift_Ins_p.P65fs	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	65					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ATAGCACGCCGCCCCCCACGCA	0.624																																					Melanoma(63;587 1613 29742 31770)	ENST00000485511.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25						c.(190-195)ccccccfs		protein phosphatase 2, regulatory subunit B', delta																																				SO:0001589	frameshift_variant	5528				nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr6:42974287_42974288insC	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.198dupC	6.37:g.42974293_42974293dupC	ENSP00000417963:p.Pro65fs					PPP2R5D_ENST00000394110.3_Frame_Shift_Ins_p.PP64fs|PPP2R5D_ENST00000461010.1_Intron|PPP2R5D_ENST00000472118.1_Frame_Shift_Ins_p.PP56fs	p.PP64fs	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		3	371_372	+			64					A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Frame_Shift_Ins	INS	ENST00000485511.1	37	c.192_193insC	CCDS4878.1																																																																																				0.624	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245		9	882						9	882	---	---	---	---
POLH	5429	broad.mit.edu	37	6	43581803	43581804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:43581803_43581804insC	ENST00000372236.4	+	11	1946_1947	c.1651_1652insC	c.(1651-1653)tccfs	p.S551fs	POLH_ENST00000535400.1_Frame_Shift_Ins_p.S489fs|POLH_ENST00000372226.1_3'UTR	NM_006502.2	NP_006493.1	O75417	DPOLQ_HUMAN	polymerase (DNA directed), eta	0	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TTCAGTTTCTTCCCCCCAACAA	0.421								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum																													ENST00000372236.4																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1651-1653)cccfs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), eta																																				SO:0001589	frameshift_variant	5429	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr6:43581803_43581804insC	AB024313	CCDS4902.1	6p21	2014-09-17			ENSG00000170734	ENSG00000170734			9181	protein-coding gene	gene with protein product		603968				10385124, 10398605	Standard	NM_006502		Approved	RAD30A, XP-V	uc003ovq.4	Q9Y253	OTTHUMG00000014743	ENST00000372236.4:c.1657dupC	6.37:g.43581809_43581809dupC	ENSP00000361310:p.Ser551fs					POLH_ENST00000372226.1_3'UTR|POLH_ENST00000535400.1_Frame_Shift_Ins_p.P489fs	p.P551fs	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		11	1946_1947	+	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		551					O95160|Q6VMB5	Frame_Shift_Ins	INS	ENST00000372236.4	37	c.1651_1652insC	CCDS4902.1																																																																																				0.421	POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040666.1	NM_006502		9	711						9	711	---	---	---	---
ENPP4	22875	broad.mit.edu	37	6	46108939	46108940	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:46108939_46108940insA	ENST00000321037.4	+	3	1207_1208	c.977_978insA	c.(976-981)ctaaatfs	p.N327fs		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	327					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						ACAATTGTGCTAAATGAATCAT	0.337																																						ENST00000321037.4																			0				central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						c.(976-978)caafs		ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)																																				SO:0001589	frameshift_variant	22875					integral to membrane	hydrolase activity	g.chr6:46108939_46108940insA	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.980dupA	6.37:g.46108942_46108942dupA	ENSP00000318066:p.Asn327fs						p.Q326fs	NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN			3	1207_1208	+			326					A8K5G1|Q7L2N1	Frame_Shift_Ins	INS	ENST00000321037.4	37	c.977_978insA	CCDS34468.1																																																																																				0.337	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			124	67						124	67	---	---	---	---
HCRTR2	3062	broad.mit.edu	37	6	55113573	55113574	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:55113573_55113574insT	ENST00000370862.3	+	2	696_697	c.360_361insT	c.(361-363)tttfs	p.F121fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	121					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTGAGACCTGGTTTTTTGGACA	0.431																																						ENST00000370862.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(358-363)tgttttfs		hypocretin (orexin) receptor 2																																				SO:0001589	frameshift_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55113573_55113574insT	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.366dupT	6.37:g.55113579_55113579dupT	ENSP00000359899:p.Phe121fs						p.CF120fs	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	696_697	+	Lung NSC(77;0.107)|Renal(3;0.122)		120					Q5VTM0	Frame_Shift_Ins	INS	ENST00000370862.3	37	c.360_361insT	CCDS4956.1																																																																																				0.431	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			11	2288						11	2288	---	---	---	---
SNX14	57231	broad.mit.edu	37	6	86223568	86223568	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:86223568delT	ENST00000314673.3	-	26	2779	c.2603delA	c.(2602-2604)aagfs	p.K868fs	SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000369627.2_Frame_Shift_Del_p.K859fs|SNX14_ENST00000505648.1_Frame_Shift_Del_p.K816fs|SNX14_ENST00000346348.3_Frame_Shift_Del_p.K815fs|SNX14_ENST00000513865.1_Frame_Shift_Del_p.K587fs	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	868					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TCCTTTTTGCTTATCTTGGAG	0.303																																						ENST00000314673.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22						c.(2602-2604)agfs		sorting nexin 14							89.0	91.0	90.0					6																	86223568		2203	4296	6499	SO:0001589	frameshift_variant	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86223568delT	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.2603delA	6.37:g.86223568delT	ENSP00000313121:p.Lys868fs					SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Frame_Shift_Del_p.K587fs|SNX14_ENST00000369627.2_Frame_Shift_Del_p.K859fs|SNX14_ENST00000346348.3_Frame_Shift_Del_p.K815fs|SNX14_ENST00000505648.1_Frame_Shift_Del_p.K816fs	p.K868fs	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	26	2779	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	868					B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Frame_Shift_Del	DEL	ENST00000314673.3	37	c.2603delA	CCDS5004.1																																																																																				0.303	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		16	5						16	5	---	---	---	---
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:87725846_87725847insC	ENST00000305344.5	+	2	1497_1498	c.794_795insC	c.(793-798)atccccfs	p.IP265fs		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	265					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TCCATCAGGATCCCCCCCTTCG	0.51																																						ENST00000305344.4																			1	Insertion - Frameshift(1)	p.F268fs*4(1)	large_intestine(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(793-795)accfs		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)																																			SO:0001589	frameshift_variant	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725846_87725847insC		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.801dupC	6.37:g.87725853_87725853dupC	ENSP00000307766:p.Ile265fs					HTR1E_ENST00000369584.1_Frame_Shift_Ins_p.T265fs	p.T265fs	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1497_1498	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	265					E1P503|Q9P1Y1	Frame_Shift_Ins	INS	ENST00000305344.5	37	c.794_795insC	CCDS5006.1																																																																																				0.510	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		15	351						15	351	---	---	---	---
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)ggafs	p.G623fs	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(1867-1869)gcafs		KIAA0408			,	4,4260		0,4,2128					,	1.5	0.5			231	7,8247		0,7,4120	no	frameshift,utr-3	KIAA0408,C6orf174	NM_014702.4,NM_001012279.2	,	0,11,6248	A1A1,A1R,RR		0.0848,0.0938,0.0879	,	,		11,12507				SO:0001589	frameshift_variant	9729						protein binding	g.chr6:127767595_127767596insC	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1869dupG	6.37:g.127767602_127767602dupC	ENSP00000435150:p.Gly623fs					SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	p.A623fs	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	5	2204_2205	-			623					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Frame_Shift_Ins	INS	ENST00000483725.3	37	c.1868_1869insG	CCDS34531.1																																																																																				0.401	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		11	356						11	356	---	---	---	---
ENPP3	5169	broad.mit.edu	37	6	132006590	132006591	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:132006590_132006591insC	ENST00000414305.1	+	14	1535_1536	c.1207_1208insC	c.(1207-1209)gccfs	p.A403fs	ENPP3_ENST00000357639.3_Frame_Shift_Ins_p.A403fs|ENPP3_ENST00000358229.5_Frame_Shift_Ins_p.A403fs			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	403	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CGAAGGGCCTGCCCCCCGCATC	0.361																																						ENST00000414305.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(1207-1209)cccfs		ectonucleotide pyrophosphatase/phosphodiesterase 3																																				SO:0001589	frameshift_variant	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:132006590_132006591insC	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1213dupC	6.37:g.132006596_132006596dupC	ENSP00000406261:p.Ala403fs					ENPP3_ENST00000357639.3_Frame_Shift_Ins_p.P403fs|ENPP3_ENST00000358229.5_Frame_Shift_Ins_p.P403fs	p.P403fs			O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	14	1535_1536	+	Breast(56;0.0753)		403			Phosphodiesterase.		Q5JTL3	Frame_Shift_Ins	INS	ENST00000414305.1	37	c.1207_1208insC	CCDS5148.1																																																																																				0.361	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			7	123						7	123	---	---	---	---
TCF21	6943	broad.mit.edu	37	6	134210862	134210863	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:134210862_134210863insC	ENST00000367882.4	+	1	587_588	c.327_328insC	c.(328-330)cccfs	p.P110fs	RP3-323P13.2_ENST00000607573.1_RNA|RP3-323P13.2_ENST00000606544.1_RNA|TCF21_ENST00000237316.3_Frame_Shift_Ins_p.P110fs|RP3-323P13.2_ENST00000607641.1_RNA|RP3-323P13.2_ENST00000607033.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	110	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		TGCCCTGGGTGCCCCCCGACAC	0.644																																						ENST00000367882.4																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13						c.(325-330)gtccccfs		transcription factor 21																																				SO:0001589	frameshift_variant	6943				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:134210862_134210863insC	AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"""Basic helix-loop-helix proteins"""	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.333dupC	6.37:g.134210868_134210868dupC	ENSP00000356857:p.Pro110fs					TCF21_ENST00000237316.3_Frame_Shift_Ins_p.VP109fs|RP3-323P13.2_ENST00000607573.1_RNA	p.VP109fs	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN		GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)	1	587_588	+	Colorectal(23;0.221)|Breast(56;0.247)		109			Helix-loop-helix motif.		E1P581|O43545|Q6ICV0|Q9BZ14	Frame_Shift_Ins	INS	ENST00000367882.4	37	c.327_328insC	CCDS5167.1																																																																																				0.644	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042292.1	NM_198392		12	251						12	251	---	---	---	---
SDK1	221935	broad.mit.edu	37	7	4245587	4245588	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:4245587_4245588insC	ENST00000404826.2	+	36	5314_5315	c.5175_5176insC	c.(5176-5178)cccfs	p.P1726fs	SDK1_ENST00000389531.3_Frame_Shift_Ins_p.P1706fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1726	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGGACCCACCACCCCCGGAGAG	0.668																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(5173-5178)ccccccfs		sidekick cell adhesion molecule 1																																				SO:0001589	frameshift_variant	221935				cell adhesion	integral to membrane		g.chr7:4245587_4245588insC	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5180dupC	7.37:g.4245592_4245592dupC	ENSP00000385899:p.Pro1726fs					SDK1_ENST00000389531.3_Frame_Shift_Ins_p.PP1705fs	p.PP1725fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	36	5314_5315	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1725			Fibronectin type-III 11.		Q8TEN9|Q8TEP5|Q96N44	Frame_Shift_Ins	INS	ENST00000404826.2	37	c.5175_5176insC	CCDS34590.1																																																																																				0.668	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		4	6						4	6	---	---	---	---
RBAK	57786	broad.mit.edu	37	7	5104048	5104050	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:5104048_5104050delGAA	ENST00000353796.3	+	6	1285_1287	c.961_963delGAA	c.(961-963)gaadel	p.E321del	RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000396912.1_In_Frame_Del_p.E321del	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	321					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TAAATGTAATGAATGTGGGAAAA	0.419																																						ENST00000396912.1																			0				NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10						c.(961-963)del		RB-associated KRAB zinc finger																																				SO:0001651	inframe_deletion	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5104048_5104050delGAA	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.961_963delGAA	7.37:g.5104048_5104050delGAA	ENSP00000275423:p.Glu321del					RBAK_ENST00000353796.3_In_Frame_Del_p.E321del|RBAK_ENST00000396904.2_Intron|RBAK_ENST00000407184.1_Intron	p.E321del	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	5	1480_1482	+		Ovarian(82;0.0175)	321					A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	In_Frame_Del	DEL	ENST00000353796.3	37	c.961_963delGAA	CCDS5337.1																																																																																				0.419	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		10	221						10	221	---	---	---	---
ETV1	2115	broad.mit.edu	37	7	13975472	13975473	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:13975472_13975473insG	ENST00000430479.1	-	8	1081_1082	c.414_415insC	c.(412-417)cccacafs	p.T139fs	ETV1_ENST00000420159.2_Frame_Shift_Ins_p.T81fs|ETV1_ENST00000343495.5_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000242066.5_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000405358.4_Frame_Shift_Ins_p.T153fs|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405192.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000403527.1_Frame_Shift_Ins_p.T99fs|ETV1_ENST00000403685.1_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000405218.2_Frame_Shift_Ins_p.T139fs	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	139					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGGATGGTGTGGGGGGGTTGG	0.53			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	ENST00000343495.5				Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""		"""Ewing sarcoma, prostate"""	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(358-363)cccaccfs		ets variant 1																																				SO:0001589	frameshift_variant	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13975472_13975473insG		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.415dupC	7.37:g.13975479_13975479dupG	ENSP00000405327:p.Thr139fs					ETV1_ENST00000405192.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000405358.4_Frame_Shift_Ins_p.T153fs|ETV1_ENST00000420159.2_Frame_Shift_Ins_p.T81fs|ETV1_ENST00000405218.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000403685.1_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000242066.5_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000430479.1_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000403527.1_Frame_Shift_Ins_p.T99fs	p.T121fs			P50549	ETV1_HUMAN			7	1098_1099	-			139					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Frame_Shift_Ins	INS	ENST00000430479.1	37	c.360_361insC	CCDS55088.1																																																																																				0.530	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		10	366						10	366	---	---	---	---
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-381)atccccfs	p.IP126fs	FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.IP179fs|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_5'UTR	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446																																						ENST00000242209.4																			0				central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(376-378)accfs		FK506 binding protein 9, 63 kDa																																				SO:0001589	frameshift_variant	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33014803_33014804insC	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.384dupC	7.37:g.33014810_33014810dupC	ENSP00000242209:p.Ile126fs					FKBP9_ENST00000538443.1_5'UTR|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs	p.T126fs	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		3	546_547	+			126			PPIase FKBP-type 1.		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Frame_Shift_Ins	INS	ENST00000242209.4	37	c.377_378insC	CCDS5439.1																																																																																				0.446	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		11	174						11	174	---	---	---	---
GUSB	2990	broad.mit.edu	37	7	65429390	65429396	+	Frame_Shift_Del	DEL	TGGTACT	TGGTACT	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:65429390_65429396delTGGTACT	ENST00000304895.4	-	11	1833_1839	c.1703_1709delAGTACCA	c.(1702-1710)cagtaccatfs	p.QYH568fs	GUSB_ENST00000421103.1_Frame_Shift_Del_p.QYH422fs|GUSB_ENST00000345660.6_Frame_Shift_Del_p.QYH517fs	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	568					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CAGACCCAGATGGTACTGCTCTAGCAG	0.435																																						ENST00000304895.4																			0				breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						c.(1702-1710)ctfs		glucuronidase, beta																																				SO:0001589	frameshift_variant	2990				glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding	g.chr7:65429390_65429396delTGGTACT	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1703_1709delAGTACCA	7.37:g.65429390_65429396delTGGTACT	ENSP00000302728:p.Gln568fs					GUSB_ENST00000345660.6_Frame_Shift_Del_p.QYH517fs|GUSB_ENST00000421103.1_Frame_Shift_Del_p.QYH422fs	p.QYH568fs	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN			11	1833_1839	-			568					B4E1F6|E9PCV0|Q549U0|Q96CL9	Frame_Shift_Del	DEL	ENST00000304895.4	37	c.1703_1709delAGTACCA	CCDS5530.1																																																																																				0.435	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		10	79						10	79	---	---	---	---
PON3	5446	broad.mit.edu	37	7	94993290	94993291	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:94993290_94993291insA	ENST00000265627.5	-	6	589_590	c.579_580insT	c.(577-582)tttgagfs	p.E194fs	PON3_ENST00000427422.1_Frame_Shift_Ins_p.E194fs|PON3_ENST00000451904.1_Frame_Shift_Ins_p.E194fs|PON1_ENST00000542556.1_Intron	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	194					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	AAGATCATCTCAAAAAATGACA	0.441																																						ENST00000265627.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24						c.(577-582)ttagatfs		paraoxonase 3																																				SO:0001589	frameshift_variant	5446							g.chr7:94993290_94993291insA	L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.580dupT	7.37:g.94993296_94993296dupA	ENSP00000265627:p.Glu194fs					PON3_ENST00000427422.1_Frame_Shift_Ins_p.LD193fs|PON1_ENST00000542556.1_Intron	p.LD193fs	NM_000940.2	NP_000931.1			STAD - Stomach adenocarcinoma(171;0.0151)		6	589_590	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)							A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Frame_Shift_Ins	INS	ENST00000265627.5	37	c.579_580insT	CCDS5639.1																																																																																				0.441	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940		9	1433						9	1433	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98550874	98550875	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:98550874_98550875insC	ENST00000359863.4	+	39	5736_5737	c.5527_5528insC	c.(5527-5529)gccfs	p.A1843fs	TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.A1824fs|TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.A1825fs	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1843					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.A1843T(1)|p.A1825T(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGTGGAGCACGCCCCCCACCAC	0.644																																						ENST00000359863.4																			2	Substitution - Missense(2)	p.A1843T(1)|p.A1825T(1)	central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(5527-5529)cccfs		transformation/transcription domain-associated protein																																				SO:0001589	frameshift_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98550874_98550875insC	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.5533dupC	7.37:g.98550880_98550880dupC	ENSP00000352925:p.Ala1843fs					TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.P1824fs|TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.P1825fs	p.P1843fs	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		39	5736_5737	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1843					A4D265|O75218|Q9Y631|Q9Y6H4	Frame_Shift_Ins	INS	ENST00000359863.4	37	c.5527_5528insC	CCDS59066.1																																																																																				0.644	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		7	494						7	494	---	---	---	---
SPDYE3	441272	broad.mit.edu	37	7	99912173	99912174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:99912173_99912174insC	ENST00000332397.6	+	6	1185_1186	c.1001_1002insC	c.(1000-1005)agccccfs	p.SP334fs	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	334										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTAGATCCCAGCCCCCCGCGTA	0.569																																						ENST00000332397.6																			0				endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1000-1002)accfs		speedy/RINGO cell cycle regulator family member E3																																				SO:0001589	frameshift_variant	441272							g.chr7:99912173_99912174insC	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1007dupC	7.37:g.99912179_99912179dupC	ENSP00000329565:p.Ser334fs					SPDYE3_ENST00000437326.2_5'UTR	p.T334fs	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN			6	1185_1186	+			334					Q495Y9|Q6PHC4	Frame_Shift_Ins	INS	ENST00000332397.6	37	c.1001_1002insC	CCDS47658.2																																																																																				0.569	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		19	650						19	650	---	---	---	---
ZCWPW1	55063	broad.mit.edu	37	7	100000150	100000151	+	Frame_Shift_Ins	INS	-	-	T	rs375737733		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:100000150_100000151insT	ENST00000398027.2	-	16	1706_1707	c.1459_1460insA	c.(1459-1461)accfs	p.T487fs	ZCWPW1_ENST00000490721.1_Frame_Shift_Ins_p.T367fs|ZCWPW1_ENST00000324725.6_Frame_Shift_Ins_p.T367fs|ZCWPW1_ENST00000360951.4_Intron	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	487							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTTGGCTTGGTTTTTTGGGTC	0.48																																						ENST00000398027.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(1459-1461)caafs		zinc finger, CW type with PWWP domain 1																																				SO:0001589	frameshift_variant	55063						zinc ion binding	g.chr7:100000150_100000151insT	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1460dupA	7.37:g.100000156_100000156dupT	ENSP00000381109:p.Thr487fs					ZCWPW1_ENST00000490721.1_Frame_Shift_Ins_p.Q367fs|ZCWPW1_ENST00000324725.6_Frame_Shift_Ins_p.Q367fs|ZCWPW1_ENST00000360951.4_Intron	p.Q487fs	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN			16	1706_1707	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		487					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Frame_Shift_Ins	INS	ENST00000398027.2	37	c.1459_1460insA	CCDS43623.1																																																																																				0.480	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		9	3138						9	3138	---	---	---	---
AGFG2	3268	broad.mit.edu	37	7	100150975	100150976	+	Frame_Shift_Ins	INS	-	-	C	rs200613398		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:100150975_100150976insC	ENST00000300176.4	+	4	559_560	c.437_438insC	c.(436-441)gtccccfs	p.VP146fs	AGFG2_ENST00000262935.4_Intron|AGFG2_ENST00000474713.1_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	146	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAAAGGTATGTCCCCCCAGACC	0.515																																						ENST00000300176.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(436-438)gccfs		ArfGAP with FG repeats 2																																				SO:0001589	frameshift_variant	3268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr7:100150975_100150976insC	AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.443dupC	7.37:g.100150981_100150981dupC	ENSP00000300176:p.Val146fs					AGFG2_ENST00000262935.4_Intron|AGFG2_ENST00000474713.1_3'UTR	p.A146fs	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN			4	559_560	+			146			Arf-GAP.		O75429|Q96AB9|Q96GL4	Frame_Shift_Ins	INS	ENST00000300176.4	37	c.437_438insC	CCDS5697.1																																																																																				0.515	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076		7	371						7	371	---	---	---	---
PCOLCE	5118	broad.mit.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C	rs538448756		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:100205413_100205414insC	ENST00000223061.5	+	8	1446_1447	c.1166_1167insC	c.(1165-1170)tgccccfs	p.CP389fs		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	389	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.M392fs*>59(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCAAGCAGTGCCCCCCCATGA	0.51																																						ENST00000223061.5																			2	Insertion - Frameshift(2)	p.M392fs*>59(2)	ovary(1)|large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23						c.(1165-1167)tccfs		procollagen C-endopeptidase enhancer																																				SO:0001589	frameshift_variant	5118				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	g.chr7:100205413_100205414insC	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.1173dupC	7.37:g.100205420_100205420dupC	ENSP00000223061:p.Cys389fs						p.S389fs	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN			8	1446_1447	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		389			NTR.		B2R9E1|O14550	Frame_Shift_Ins	INS	ENST00000223061.5	37	c.1166_1167insC	CCDS5700.1																																																																																				0.510	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		35	732						35	732	---	---	---	---
SLC12A9	56996	broad.mit.edu	37	7	100459489	100459490	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:100459489_100459490insG	ENST00000354161.3	+	12	1792_1793	c.1667_1668insG	c.(1666-1671)aaggggfs	p.KG556fs	SLC12A9_ENST00000415287.1_Frame_Shift_Ins_p.KG467fs|SLC12A9_ENST00000275729.3_Frame_Shift_Ins_p.KG467fs|SLC12A9_ENST00000428758.1_Frame_Shift_Ins_p.KG556fs|SLC12A9_ENST00000540482.1_Frame_Shift_Ins_p.KG556fs	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	556					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAGCTTAAGAAGGGGGGGCTGT	0.644																																						ENST00000354161.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(1666-1668)aggfs		solute carrier family 12, member 9																																				SO:0001589	frameshift_variant	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100459489_100459490insG	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1674dupG	7.37:g.100459496_100459496dupG	ENSP00000275730:p.Lys556fs					SLC12A9_ENST00000415287.1_Frame_Shift_Ins_p.R467fs|SLC12A9_ENST00000428758.1_Frame_Shift_Ins_p.R556fs|SLC12A9_ENST00000540482.1_Frame_Shift_Ins_p.R556fs|SLC12A9_ENST00000275729.3_Frame_Shift_Ins_p.R467fs	p.R556fs	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			12	1792_1793	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		556					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Frame_Shift_Ins	INS	ENST00000354161.3	37	c.1667_1668insG	CCDS5707.1																																																																																				0.644	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		7	105						7	105	---	---	---	---
PLOD3	8985	broad.mit.edu	37	7	100856125	100856126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:100856125_100856126insC	ENST00000223127.3	-	8	1274_1275	c.876_877insG	c.(874-879)gggcagfs	p.Q293fs		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	293					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CACCTCACCTGCCCCCCCGGGA	0.673																																						ENST00000223127.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						c.(874-879)ggagccfs		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	Succinic acid(DB00139)|Vitamin C(DB00126)			29,4225		1,27,2099						4.0	1.0			29	20,8212		0,20,4096	no	frameshift	PLOD3	NM_001084.4		1,47,6195	A1A1,A1R,RR		0.243,0.6817,0.3924				49,12437				SO:0001589	frameshift_variant	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100856125_100856126insC	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.877dupG	7.37:g.100856132_100856132dupC	ENSP00000223127:p.Gln293fs						p.A293fs	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN			8	1274_1275	-	Lung NSC(181;0.168)|all_lung(186;0.215)		293					B2R6W6|Q540C3	Frame_Shift_Ins	INS	ENST00000223127.3	37	c.876_877insG	CCDS5715.1																																																																																				0.673	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			11	140						11	140	---	---	---	---
CCDC136	64753	broad.mit.edu	37	7	128457829	128457830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:128457829_128457830insC	ENST00000297788.4	+	17	3748_3749	c.3381_3382insC	c.(3382-3384)cccfs	p.P1128fs	CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.P420fs|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.P408fs|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.P489fs|CCDC136_ENST00000471729.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1128						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTACCCCCAATCCCCCCATCTT	0.52																																						ENST00000297788.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(3379-3384)aaccccfs		coiled-coil domain containing 136																																				SO:0001589	frameshift_variant	64753					integral to membrane	protein binding	g.chr7:128457829_128457830insC		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.3387dupC	7.37:g.128457835_128457835dupC	ENSP00000297788:p.Pro1128fs					CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs|CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.NP419fs|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs	p.NP1127fs	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN			17	3748_3749	+			1127					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Frame_Shift_Ins	INS	ENST00000297788.4	37	c.3381_3382insC	CCDS47704.1																																																																																				0.520	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		10	1491						10	1491	---	---	---	---
TRBV4-2	28616	broad.mit.edu	37	7	142045511	142045512	+	RNA	INS	-	-	C	rs574092449|rs372744309	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:142045511_142045512insC	ENST00000390392.3	+	0	160									T cell receptor beta variable 4-2																		TTTGTCCCTTTCCCCCCGCAGT	0.485																																						ENST00000390392.3																			0																																																			28616							g.chr7:142045511_142045512insC	U07975		7q34	2012-02-07			ENSG00000211745	ENSG00000211745		"""T cell receptors / TRB locus"""	12216	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV42, TCRBV4S2, TCRBV7S3A2T			OTTHUMG00000158525		7.37:g.142045517_142045517dupC														0	160	+									RNA	INS	ENST00000390392.3	37																																																																																						0.485	TRBV4-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351231.1	NG_001333		9	596						9	596	---	---	---	---
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)gggccafs	p.P424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACATGGAATGGCCCCCCAAGAA	0.505																																						ENST00000265310.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(1267-1272)ggcattfs		transient receptor potential cation channel, subfamily V, member 5				0,4264		0,0,2132						4.4	0.1			148	2,8252		0,2,4125	no	frameshift	TRPV5	NM_019841.4		0,2,6257	A1A1,A1R,RR		0.0242,0.0,0.016				2,12516				SO:0001589	frameshift_variant	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142612493_142612494insC	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1270dupG	7.37:g.142612499_142612499dupC	ENSP00000265310:p.Pro424fs						p.I424fs	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN			10	1617_1618	-	Melanoma(164;0.059)		424					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Frame_Shift_Ins	INS	ENST00000265310.1	37	c.1269_1270insG	CCDS5875.1																																																																																				0.505	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		10	572						10	572	---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2088682	2088683	+	Frame_Shift_Ins	INS	-	-	G	rs34620424	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:2088682_2088683insG	ENST00000262113.4	+	33	3978_3979	c.3837_3838insG	c.(3838-3840)gggfs	p.G1280fs	MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.G705fs	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1280					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATATGAGAATCGGGGGGAGTGA	0.446																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(3835-3840)atggggfs		myomesin 2																																				SO:0001589	frameshift_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2088682_2088683insG		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3843dupG	8.37:g.2088688_2088688dupG	ENSP00000262113:p.Gly1280fs					MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.MG704fs	p.MG1279fs	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	33	3978_3979	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	1279					Q7Z3Y2	Frame_Shift_Ins	INS	ENST00000262113.4	37	c.3837_3838insG	CCDS5957.1																																																																																				0.446	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		9	634						9	634	---	---	---	---
PSD3	23362	broad.mit.edu	37	8	18413784	18413785	+	Frame_Shift_Ins	INS	-	-	G	rs28651847	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:18413784_18413785insG	ENST00000327040.8	-	15	2964_2965	c.2862_2863insC	c.(2860-2865)cccgacfs	p.D955fs	PSD3_ENST00000523619.1_Frame_Shift_Ins_p.D890fs|PSD3_ENST00000286485.8_Frame_Shift_Ins_p.D421fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.D284fs|PSD3_ENST00000440756.2_Frame_Shift_Ins_p.D957fs	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	956					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.D421Y(1)|p.D957Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTCTTGTCGGGGGGATATG	0.48																																						ENST00000440756.2																			2	Substitution - Missense(2)	p.D421Y(1)|p.D957Y(1)	kidney(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2866-2871)ccacaafs		pleckstrin and Sec7 domain containing 3																																				SO:0001589	frameshift_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18413784_18413785insG	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2863dupC	8.37:g.18413790_18413790dupG	ENSP00000324127:p.Asp955fs					PSD3_ENST00000327040.8_Frame_Shift_Ins_p.Q955fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.Q890fs|PSD3_ENST00000286485.8_Frame_Shift_Ins_p.Q421fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.Q284fs	p.Q957fs			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	15	2970_2971	-			956					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Frame_Shift_Ins	INS	ENST00000327040.8	37	c.2868_2869insC	CCDS43720.1																																																																																				0.480	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		20	1074						20	1074	---	---	---	---
PSD3	23362	broad.mit.edu	37	8	18725321	18725322	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:18725321_18725322insC	ENST00000327040.8	-	4	1598_1599	c.1496_1497insG	c.(1495-1497)ggafs	p.G499fs	PSD3_ENST00000523619.1_Frame_Shift_Ins_p.G434fs|PSD3_ENST00000440756.2_Frame_Shift_Ins_p.G499fs	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	499					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CCTGATGTCCTCCCCCTGATGT	0.495																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1495-1497)gggfs		pleckstrin and Sec7 domain containing 3																																				SO:0001589	frameshift_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18725321_18725322insC	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.1497dupG	8.37:g.18725326_18725326dupC	ENSP00000324127:p.Gly499fs					PSD3_ENST00000327040.8_Frame_Shift_Ins_p.G499fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.G434fs	p.G499fs			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	4	1598_1599	-			499					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Frame_Shift_Ins	INS	ENST00000327040.8	37	c.1496_1497insG	CCDS43720.1																																																																																				0.495	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		8	1600						8	1600	---	---	---	---
ADRA1A	148	broad.mit.edu	37	8	26722382	26722383	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:26722382_26722383insC	ENST00000519229.1	-	1	110_111	c.104_105insG	c.(103-105)ggcfs	p.G35fs	ADRA1A_ENST00000354550.4_Frame_Shift_Ins_p.G35fs|ADRA1A_ENST00000380572.3_Frame_Shift_Ins_p.G35fs|ADRA1A_ENST00000380573.3_Frame_Shift_Ins_p.G35fs|ADRA1A_ENST00000276393.4_Frame_Shift_Ins_p.G35fs|ADRA1A_ENST00000380581.2_Frame_Shift_Ins_p.G35fs|ADRA1A_ENST00000380587.1_Frame_Shift_Ins_p.G35fs|ADRA1A_ENST00000380586.1_Frame_Shift_Ins_p.G35fs|ADRA1A_ENST00000358857.5_Frame_Shift_Ins_p.G35fs|ADRA1A_ENST00000380582.3_Frame_Shift_Ins_p.G35fs			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	105				MTFRDLLSVSFEGPRPDSSAGGSSAGGGGGSAGGAAPSEGP AVGGVPGGAGGGGGVVGAGSGEDNRSSAGEPGSAGAGGDVN G -> MAAALRSVMMAGYLSEWRTPTYRSTEMVQRLRMEAV QHSTS (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	AAAGAATGAGGCCCCCCAAGAT	0.569																																						ENST00000380573.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36						c.(103-105)gctfs		adrenoceptor alpha 1A	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)																																			SO:0001589	frameshift_variant	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26722382_26722383insC	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.105dupG	8.37:g.26722388_26722388dupC	ENSP00000430793:p.Gly35fs					ADRA1A_ENST00000380587.1_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000276393.4_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000380582.3_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000358857.5_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000354550.4_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000380586.1_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000380572.3_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000519229.1_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000380581.2_Frame_Shift_Ins_p.A35fs	p.A35fs			P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	2	1127_1128	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	35					Q9NPY0	Frame_Shift_Ins	INS	ENST00000519229.1	37	c.104_105insG																																																																																					0.569	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		7	270						7	270	---	---	---	---
FBXO16	157574	broad.mit.edu	37	8	28340937	28340938	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:28340937_28340938insT	ENST00000380254.2	-	2	174_175	c.26_27insA	c.(25-27)aacfs	p.N9fs	FBXO16_ENST00000517436.1_Intron|FBXO16_ENST00000518734.1_Frame_Shift_Ins_p.N9fs|FBXO16_ENST00000519471.2_Frame_Shift_Ins_p.N9fs|FBXO16_ENST00000346498.2_Frame_Shift_Ins_p.N9fs	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	9										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		GACCATCTGTGTTTTTTGGAGG	0.396																																						ENST00000380254.2																			0				large_intestine(2)|ovary(1)	3						c.(25-27)aacfs		F-box protein 16																																				SO:0001589	frameshift_variant	157574							g.chr8:28340937_28340938insT	AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"""F-boxes /  ""other"""""	13618	protein-coding gene	gene with protein product		608519	"""F-box only protein 16"""			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.27dupA	8.37:g.28340943_28340943dupT	ENSP00000369604:p.Asn9fs					FBXO16_ENST00000518734.1_Frame_Shift_Ins_p.N9fs|FBXO16_ENST00000517436.1_Intron|FBXO16_ENST00000519471.2_Frame_Shift_Ins_p.N9fs|FBXO16_ENST00000346498.2_Frame_Shift_Ins_p.N9fs	p.N9fs	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)	2	174_175	-		Ovarian(32;2.06e-05)	9					Q3T1B2|Q3T1B3|Q3T1B4	Frame_Shift_Ins	INS	ENST00000380254.2	37	c.26_27insA	CCDS6068.1																																																																																				0.396	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219988.2	NM_172366		7	747						7	747	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35584019	35584020	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:35584019_35584020insG	ENST00000404895.2	+	10	1981_1982	c.1653_1654insG	c.(1654-1656)gggfs	p.G552fs	UNC5D_ENST00000449677.1_Frame_Shift_Ins_p.G128fs|UNC5D_ENST00000287272.2_Frame_Shift_Ins_p.G483fs|UNC5D_ENST00000453357.2_Frame_Shift_Ins_p.G547fs|UNC5D_ENST00000420357.1_Frame_Shift_Ins_p.G485fs|UNC5D_ENST00000416672.1_Frame_Shift_Ins_p.G557fs	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	552	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTGGCCATTTAGGGGGGCGCTT	0.411																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(1444-1449)ttggggfs		unc-5 homolog D (C. elegans)																																				SO:0001589	frameshift_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35584019_35584020insG	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1659dupG	8.37:g.35584025_35584025dupG	ENSP00000385143:p.Gly552fs					UNC5D_ENST00000453357.2_Frame_Shift_Ins_p.LG546fs|UNC5D_ENST00000404895.2_Frame_Shift_Ins_p.LG551fs|UNC5D_ENST00000420357.1_Frame_Shift_Ins_p.LG484fs|UNC5D_ENST00000449677.1_Frame_Shift_Ins_p.LG127fs|UNC5D_ENST00000416672.1_Frame_Shift_Ins_p.LG556fs	p.LG482fs			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	9	1466_1467	+			551					Q8WYP7	Frame_Shift_Ins	INS	ENST00000404895.2	37	c.1446_1447insG	CCDS6093.2																																																																																				0.411	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			12	900						12	900	---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73480396	73480397	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:73480396_73480397insA	ENST00000523207.1	+	2	1015_1016	c.427_428insA	c.(427-429)caafs	p.Q143fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	143					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.Q143K(1)|p.E146fs*3(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CAGATATCATCAAAAAAAAGAA	0.446																																						ENST00000523207.1																			2	Substitution - Missense(1)|Deletion - Frameshift(1)	p.Q143K(1)|p.E146fs*3(1)	ovary(1)|lung(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(427-429)aaafs		potassium voltage-gated channel, Shab-related subfamily, member 2																																				SO:0001589	frameshift_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480396_73480397insA	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.435dupA	8.37:g.73480404_73480404dupA	ENSP00000430846:p.Gln143fs						p.K143fs	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	1015_1016	+	Breast(64;0.137)		143					Q7Z7D0|Q9BXD3	Frame_Shift_Ins	INS	ENST00000523207.1	37	c.427_428insA	CCDS6209.1																																																																																				0.446	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		7	517						7	517	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77617546	77617547	+	Frame_Shift_Ins	INS	-	-	G	rs13252403|rs13250763		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:77617546_77617547insG	ENST00000521891.2	+	2	1671_1672	c.1223_1224insG	c.(1222-1227)ctggggfs	p.LG408fs	ZFHX4_ENST00000455469.2_Frame_Shift_Ins_p.LG408fs|ZFHX4_ENST00000050961.6_Frame_Shift_Ins_p.LG408fs|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Frame_Shift_Ins_p.LG408fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAGTGAATCTGGGGGGGCTGT	0.535										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(1222-1224)cggfs		zinc finger homeobox 4																																				SO:0001589	frameshift_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617546_77617547insG		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1230dupG	8.37:g.77617553_77617553dupG	ENSP00000430497:p.Leu408fs	HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Frame_Shift_Ins_p.R408fs|ZFHX4_ENST00000050961.6_Frame_Shift_Ins_p.R408fs|ZFHX4_ENST00000518282.1_Frame_Shift_Ins_p.R408fs|ZFHX4_ENST00000517683.1_Intron	p.R408fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	1671_1672	+			408					G3V138|Q18PS0|Q6ZN20	Frame_Shift_Ins	INS	ENST00000521891.2	37	c.1223_1224insG	CCDS47878.2																																																																																				0.535	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		9	89						9	89	---	---	---	---
POP1	10940	broad.mit.edu	37	8	99168467	99168468	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:99168467_99168468insA	ENST00000401707.2	+	15	2328_2329	c.2247_2248insA	c.(2248-2250)aaafs	p.K750fs	POP1_ENST00000349693.3_Frame_Shift_Ins_p.K750fs	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	750					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CTCCCATGCCTAAAAAAACTCA	0.51																																						ENST00000401707.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2245-2250)ccaaaafs		processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)																																				SO:0001589	frameshift_variant	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99168467_99168468insA	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.2254dupA	8.37:g.99168474_99168474dupA	ENSP00000385787:p.Lys750fs					POP1_ENST00000349693.3_Frame_Shift_Ins_p.PK749fs	p.PK749fs	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		15	2328_2329	+	Breast(36;1.78e-06)		749					A8K5W9|Q15037	Frame_Shift_Ins	INS	ENST00000401707.2	37	c.2247_2248insA	CCDS6277.1																																																																																				0.510	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		7	1028						7	1028	---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103341320	103341324	+	Frame_Shift_Del	DEL	TGTTA	TGTTA	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:103341320_103341324delTGTTA	ENST00000520539.1	-	11	1926_1930	c.1320_1324delTAACA	c.(1318-1326)aataacaagfs	p.NN440fs	UBR5_ENST00000220959.4_Frame_Shift_Del_p.NN440fs|UBR5_ENST00000521922.1_Frame_Shift_Del_p.NN434fs	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	440					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTTCATACCTTGTTATTTTCTGTAG	0.327																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(1318-1326)aaagfs		ubiquitin protein ligase E3 component n-recognin 5																																				SO:0001589	frameshift_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103341320_103341324delTGTTA	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1320_1324delTAACA	8.37:g.103341320_103341324delTGTTA	ENSP00000429084:p.Asn440fs					UBR5_ENST00000220959.4_Frame_Shift_Del_p.NNK440fs|UBR5_ENST00000521922.1_Frame_Shift_Del_p.NNK434fs	p.NNK440fs	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		11	1926_1930	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		440					B2RP24|J3KMW7|O94970|Q9NPL3	Frame_Shift_Del	DEL	ENST00000520539.1	37	c.1320_1324delTAACA	CCDS34933.1																																																																																				0.327	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		115	269						115	269	---	---	---	---
MROH5	389690	broad.mit.edu	37	8	142477454	142477463	+	RNA	DEL	CCTGGCCCTT	CCTGGCCCTT	-	rs139022001		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:142477454_142477463delCCTGGCCCTT	ENST00000430863.1	-	0	2403					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		CCCTCCGCCCcctggcccttcctggccctt	0.671																																						ENST00000430863.1																			0													maestro heat-like repeat family member 5				428,2966		83,262,1352						2.7	0.0		dbSNP_134	7	879,6431		151,577,2927	no	intron	FLJ43860	NM_207414.2		234,839,4279	A1A1,A1R,RR		12.0246,12.6105,12.2104				1307,9397						389690							g.chr8:142477454_142477463delCCTGGCCCTT			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142477464_142477473delCCTGGCCCTT								NM_207414.2	NP_997297.2					0	2403	-									RNA	DEL	ENST00000430863.1	37																																																																																						0.671	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		4	4						4	4	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14823286	14823287	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:14823286_14823287insG	ENST00000380880.3	-	13	2991_2992	c.2208_2209insC	c.(2206-2211)cccatgfs	p.M737fs	FREM1_ENST00000380881.4_Frame_Shift_Ins_p.M738fs|FREM1_ENST00000422223.2_Frame_Shift_Ins_p.M737fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	737					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGTCTTGCATGGGGGGCATGT	0.441																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2209-2214)cctgcafs		FRAS1 related extracellular matrix 1																																				SO:0001589	frameshift_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14823286_14823287insG	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2209dupC	9.37:g.14823292_14823292dupG	ENSP00000370262:p.Met737fs					FREM1_ENST00000422223.2_Frame_Shift_Ins_p.A737fs|FREM1_ENST00000380880.3_Frame_Shift_Ins_p.A737fs	p.A738fs			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	14	3026_3027	-			737					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Frame_Shift_Ins	INS	ENST00000380880.3	37	c.2211_2212insC	CCDS47952.1																																																																																				0.441	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		15	1768						15	1768	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14848680	14848681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:14848680_14848681insG	ENST00000380880.3	-	7	2026_2027	c.1243_1244insC	c.(1243-1245)cgtfs	p.R415fs	FREM1_ENST00000380881.4_Frame_Shift_Ins_p.R416fs|FREM1_ENST00000422223.2_Frame_Shift_Ins_p.R415fs|RNU6-1260P_ENST00000362944.1_RNA			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	415					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCAGGATACACGGGGGGCATTT	0.426																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1246-1248)tgtfs		FRAS1 related extracellular matrix 1																																				SO:0001589	frameshift_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14848680_14848681insG	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1244dupC	9.37:g.14848686_14848686dupG	ENSP00000370262:p.Arg415fs					FREM1_ENST00000422223.2_Frame_Shift_Ins_p.C415fs|FREM1_ENST00000380880.3_Frame_Shift_Ins_p.C415fs	p.C416fs			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	8	2061_2062	-			415					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Frame_Shift_Ins	INS	ENST00000380880.3	37	c.1246_1247insC	CCDS47952.1																																																																																				0.426	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		7	396						7	396	---	---	---	---
AQP7	364	broad.mit.edu	37	9	33385689	33385690	+	Frame_Shift_Ins	INS	-	-	G	rs369644615|rs3215969|rs139024279		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:33385689_33385690insG	ENST00000537089.1	-	6	742_743	c.424_425insC	c.(424-426)cgcfs	p.R142fs	AQP7_ENST00000541274.1_Frame_Shift_Ins_p.P102fs|AQP7_ENST00000377425.4_Frame_Shift_Ins_p.R177fs|AQP7_ENST00000539936.1_Frame_Shift_Ins_p.R234fs			O14520	AQP7_HUMAN	aquaporin 7	234					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)	p.R234fs*35(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GGTGAAGATGCGGGGGGGCAGG	0.579																																						ENST00000537089.1																			1	Insertion - Frameshift(1)	p.R234fs*35(1)	lung(1)	NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(424-426)catfs		aquaporin 7																																				SO:0001589	frameshift_variant	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385689_33385690insG	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.425dupC	9.37:g.33385696_33385696dupG	ENSP00000441619:p.Arg142fs					AQP7_ENST00000539936.1_Frame_Shift_Ins_p.H234fs|AQP7_ENST00000377425.4_Frame_Shift_Ins_p.H177fs|AQP7_ENST00000541274.1_Frame_Shift_Ins_p.P102fs	p.H142fs			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	6	742_743	-			234					Q08E94|Q5T5L9|Q8NHM3	Frame_Shift_Ins	INS	ENST00000537089.1	37	c.424_425insC																																																																																					0.579	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		9	477						9	477	---	---	---	---
UBAP1	51271	broad.mit.edu	37	9	34241784	34241785	+	Frame_Shift_Ins	INS	-	-	C	rs536841538		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:34241784_34241785insC	ENST00000297661.4	+	4	996_997	c.761_762insC	c.(760-765)ctccccfs	p.LP254fs	UBAP1_ENST00000379186.4_Frame_Shift_Ins_p.LP254fs|UBAP1_ENST00000359544.2_Frame_Shift_Ins_p.LP254fs|UBAP1_ENST00000545103.1_Frame_Shift_Ins_p.LP318fs|UBAP1_ENST00000540348.1_Frame_Shift_Ins_p.LP254fs|UBAP1_ENST00000543944.1_Frame_Shift_Ins_p.LP290fs|UBAP1_ENST00000536252.1_Frame_Shift_Ins_p.LP254fs	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	254					protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)			endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			AAAGTGTCCCTCCCCCCTATAC	0.465																																					NSCLC(109;1074 1634 14978 20375 39620)	ENST00000536252.1																			0				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13						c.(760-762)cccfs		ubiquitin associated protein 1																																				SO:0001589	frameshift_variant	51271					cytoplasm		g.chr9:34241784_34241785insC	AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"""ubiquitin associated protein"""	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.767dupC	9.37:g.34241790_34241790dupC	ENSP00000297661:p.Leu254fs					UBAP1_ENST00000379186.4_Frame_Shift_Ins_p.P254fs|UBAP1_ENST00000297661.4_Frame_Shift_Ins_p.P254fs|UBAP1_ENST00000545103.1_Frame_Shift_Ins_p.P318fs|UBAP1_ENST00000540348.1_Frame_Shift_Ins_p.P254fs|UBAP1_ENST00000543944.1_Frame_Shift_Ins_p.P290fs|UBAP1_ENST00000359544.2_Frame_Shift_Ins_p.P254fs	p.P254fs	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00272)		5	1159_1160	+			254					B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Frame_Shift_Ins	INS	ENST00000297661.4	37	c.761_762insC	CCDS6550.1																																																																																				0.465	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001084.1			8	157						8	157	---	---	---	---
FAM219A	203259	broad.mit.edu	37	9	34401027	34401028	+	Frame_Shift_Ins	INS	-	-	G	rs202019820		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:34401027_34401028insG	ENST00000445726.1	-	6	798_799	c.492_493insC	c.(490-495)cccaagfs	p.K165fs	FAM219A_ENST00000379084.1_Splice_Site_p.N147fs|FAM219A_ENST00000379081.1_Frame_Shift_Ins_p.K136fs|FAM219A_ENST00000297620.4_Frame_Shift_Ins_p.K148fs|FAM219A_ENST00000379080.1_Frame_Shift_Ins_p.K152fs|FAM219A_ENST00000379087.1_Frame_Shift_Ins_p.K146fs|FAM219A_ENST00000379089.1_Frame_Shift_Ins_p.K163fs	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	F219A_HUMAN	family with sequence similarity 219, member A	165																	TTCACGGACTTGGGGGGGATGA	0.644																																						ENST00000445726.1																			0											c.(490-495)ccagtcfs		family with sequence similarity 219, member A																																				SO:0001589	frameshift_variant	203259							g.chr9:34401027_34401028insG	AK096350	CCDS6556.1, CCDS55304.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164970	ENSG00000164970			19920	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 25"""	C9orf25		9110174, 8619474	Standard	NM_147202		Approved	bA573M23.5, FLJ39031	uc011lok.2	Q8IW50	OTTHUMG00000019822	ENST00000445726.1:c.493dupC	9.37:g.34401034_34401034dupG	ENSP00000392452:p.Lys165fs					FAM219A_ENST00000379080.1_Frame_Shift_Ins_p.V152fs|FAM219A_ENST00000297620.4_Frame_Shift_Ins_p.V148fs|FAM219A_ENST00000379089.1_Frame_Shift_Ins_p.V163fs|FAM219A_ENST00000379081.1_Frame_Shift_Ins_p.V136fs|FAM219A_ENST00000379087.1_Frame_Shift_Ins_p.V146fs|FAM219A_ENST00000379084.1_Splice_Site_p.P147_splice	p.V165fs	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	CI025_HUMAN			6	798_799	-			165					A2A364|B4DFE1|B4DSR8|Q5T590|Q5T591|Q5T592|Q5T594|Q5T595|Q8TAZ8	Frame_Shift_Ins	INS	ENST00000445726.1	37	c.492_493insC	CCDS55304.1																																																																																				0.644	FAM219A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001184940		11	148						11	148	---	---	---	---
PIGO	84720	broad.mit.edu	37	9	35091522	35091523	+	Frame_Shift_Ins	INS	-	-	G	rs144233446		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:35091522_35091523insG	ENST00000378617.3	-	7	2755_2756	c.2361_2362insC	c.(2359-2364)cccactfs	p.T788fs	PIGO_ENST00000341666.3_Frame_Shift_Ins_p.T788fs|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	788					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.T788fs*5(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTGAGAAGTGGGGGGGCCTG	0.604																																						ENST00000378617.3																			1	Insertion - Frameshift(1)	p.T788fs*5(1)	ovary(1)	endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(2359-2364)cccttcfs		phosphatidylinositol glycan anchor biosynthesis, class O																																				SO:0001589	frameshift_variant	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35091522_35091523insG	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2362dupC	9.37:g.35091529_35091529dupG	ENSP00000367880:p.Thr788fs					PIGO_ENST00000341666.3_Frame_Shift_Ins_p.F788fs|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron	p.F788fs	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	2755_2756	-			788					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Frame_Shift_Ins	INS	ENST00000378617.3	37	c.2361_2362insC	CCDS6575.1																																																																																				0.604	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		17	304						17	304	---	---	---	---
CCIN	881	broad.mit.edu	37	9	36170618	36170619	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:36170618_36170619insG	ENST00000335119.2	+	1	1230_1231	c.1119_1120insG	c.(1120-1122)gggfs	p.G374fs		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	374					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TGGTGACCTGTGGGGGGACAGT	0.584																																						ENST00000335119.2																			0				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21						c.(1117-1122)tgggggfs		calicin																																				SO:0001589	frameshift_variant	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36170618_36170619insG	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.1125dupG	9.37:g.36170624_36170624dupG	ENSP00000334996:p.Gly374fs						p.WG373fs	NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	1230_1231	+			373					Q9BXG7	Frame_Shift_Ins	INS	ENST00000335119.2	37	c.1119_1120insG	CCDS6599.1																																																																																				0.584	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		8	533						8	533	---	---	---	---
ZBTB5	9925	broad.mit.edu	37	9	37442161	37442162	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:37442161_37442162insG	ENST00000307750.4	-	2	575_576	c.387_388insC	c.(385-390)cccagtfs	p.S130fs		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	130					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		ACGCGCTCACTGGGGGGAGACA	0.525																																						ENST00000307750.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						c.(385-390)ccgtgafs		zinc finger and BTB domain containing 5																																				SO:0001589	frameshift_variant	9925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:37442161_37442162insG	AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.388dupC	9.37:g.37442167_37442167dupG	ENSP00000307604:p.Ser130fs						p.*130fs	NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN		GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)	2	575_576	-			130						Frame_Shift_Ins	INS	ENST00000307750.4	37	c.387_388insC	CCDS6610.1																																																																																				0.525	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1	NM_014872		10	928						10	928	---	---	---	---
PCSK5	5125	broad.mit.edu	37	9	78686773	78686774	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:78686773_78686774insC	ENST00000545128.1	+	7	1391_1392	c.853_854insC	c.(853-855)gccfs	p.A285fs	PCSK5_ENST00000376767.3_Frame_Shift_Ins_p.A285fs|PCSK5_ENST00000376752.4_Frame_Shift_Ins_p.A285fs	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	285	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGACGGACCAGCCCCCCTCACC	0.515																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(853-855)cccfs		proprotein convertase subtilisin/kexin type 5																																				SO:0001589	frameshift_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78686773_78686774insC		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.859dupC	9.37:g.78686779_78686779dupC	ENSP00000446280:p.Ala285fs					PCSK5_ENST00000376752.4_Frame_Shift_Ins_p.P285fs|PCSK5_ENST00000376767.3_Frame_Shift_Ins_p.P285fs	p.P285fs	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			7	1391_1392	+			285			Catalytic.		F5H2G7|Q13527|Q96EP4	Frame_Shift_Ins	INS	ENST00000545128.1	37	c.853_854insC	CCDS55320.1																																																																																				0.515	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				14	1003						14	1003	---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98211548	98211549	+	Frame_Shift_Ins	INS	-	-	G	rs138240178	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:98211548_98211549insG	ENST00000331920.6	-	22	3905_3906	c.3606_3607insC	c.(3604-3609)cccagcfs	p.S1203fs	PTCH1_ENST00000437951.1_Frame_Shift_Ins_p.S1137fs|PTCH1_ENST00000418258.1_Frame_Shift_Ins_p.S1052fs|PTCH1_ENST00000421141.1_Frame_Shift_Ins_p.S1052fs|PTCH1_ENST00000375274.2_Frame_Shift_Ins_p.S1202fs|PTCH1_ENST00000430669.2_Frame_Shift_Ins_p.S1137fs|PTCH1_ENST00000429896.2_Frame_Shift_Ins_p.S1052fs	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1203					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.S1203fs*52(2)|p.S1202fs*52(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CGGACCACGCTGGGGGGTGGCT	0.594																																						ENST00000430669.2																			3	Deletion - Frameshift(3)	p.S1203fs*52(2)|p.S1202fs*52(1)	large_intestine(3)	NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(3406-3411)ccgcgtfs		patched 1																																				SO:0001589	frameshift_variant	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98211548_98211549insG	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3607dupC	9.37:g.98211554_98211554dupG	ENSP00000332353:p.Ser1203fs					PTCH1_ENST00000437951.1_Frame_Shift_Ins_p.R1137fs|PTCH1_ENST00000429896.2_Frame_Shift_Ins_p.R1052fs|PTCH1_ENST00000331920.6_Frame_Shift_Ins_p.R1203fs|PTCH1_ENST00000418258.1_Frame_Shift_Ins_p.R1052fs|PTCH1_ENST00000375274.2_Frame_Shift_Ins_p.R1202fs|PTCH1_ENST00000421141.1_Frame_Shift_Ins_p.R1052fs	p.R1137fs			Q13635	PTC1_HUMAN			22	3993_3994	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	1203					A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Frame_Shift_Ins	INS	ENST00000331920.6	37	c.3408_3409insC	CCDS6714.1																																																																																				0.594	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		2	4						2	4	---	---	---	---
CCDC180	100499483	broad.mit.edu	37	9	100082417	100082418	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:100082417_100082418insC	ENST00000357054.1	+	25	2573_2574	c.1638_1639insC	c.(1639-1641)cccfs	p.P547fs	CCDC180_ENST00000395220.1_Frame_Shift_Ins_p.P507fs|CCDC180_ENST00000375202.2_Frame_Shift_Ins_p.P408fs|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_Frame_Shift_Ins_p.P405fs|CCDC180_ENST00000529487.1_Frame_Shift_Ins_p.P408fs|CCDC180_ENST00000460482.2_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	547						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GTGACCTCCTGCCCCCCAGTTA	0.505																																						ENST00000375202.2																			0											c.(1219-1224)ctccccfs		coiled-coil domain containing 180																																				SO:0001589	frameshift_variant	100499483							g.chr9:100082417_100082418insC	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1644dupC	9.37:g.100082423_100082423dupC	ENSP00000349562:p.Pro547fs					CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000357054.1_Frame_Shift_Ins_p.LP546fs|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Frame_Shift_Ins_p.LP407fs|CCDC180_ENST00000395220.1_Frame_Shift_Ins_p.LP506fs|CCDC180_ENST00000411667.2_Frame_Shift_Ins_p.LP404fs	p.LP407fs							25	2573_2574	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Frame_Shift_Ins	INS	ENST00000357054.1	37	c.1221_1222insC																																																																																					0.505	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		14	718						14	718	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)ggcfs	p.G592fs	ABCA1_ENST00000494467.1_5'Flank	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGTAGGCGAAGCCCCCCCAGAC	0.54																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(1774-1776)gttfs		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)																																			SO:0001589	frameshift_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107593322_107593323insC	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1776dupG	9.37:g.107593329_107593329dupC	ENSP00000363868:p.Gly592fs						p.V592fs	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	14	2169_2170	-			592					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Frame_Shift_Ins	INS	ENST00000374736.3	37	c.1775_1776insG	CCDS6762.1																																																																																				0.540	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		12	292						12	292	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109691601	109691602	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:109691601_109691602insG	ENST00000277225.5	+	3	5697_5698	c.5408_5409insG	c.(5407-5412)ttggggfs	p.LG1803fs	ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.LG1803fs|ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.LG648fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1803					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCCAGCAAGTTGGGGGGCTACT	0.55																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(5407-5409)tggfs		zinc finger protein 462																																				SO:0001589	frameshift_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109691601_109691602insG	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5414dupG	9.37:g.109691607_109691607dupG	ENSP00000277225:p.Leu1803fs					ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs|ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs	p.W1803fs			Q96JM2	ZN462_HUMAN			3	5697_5698	+			1803					Q5T0T4|Q8N408	Frame_Shift_Ins	INS	ENST00000277225.5	37	c.5408_5409insG	CCDS35096.1																																																																																				0.550	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		7	398						7	398	---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:118982329_118982330insC	ENST00000328252.3	+	5	2401_2402	c.2032_2033insC	c.(2032-2034)gccfs	p.A678fs	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	678					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTTGCCCTCGCCCCCCAAGTT	0.574																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(2032-2034)cccfs		pregnancy-associated plasma protein A, pappalysin 1																																				SO:0001589	frameshift_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118982329_118982330insC		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2038dupC	9.37:g.118982335_118982335dupC	ENSP00000330658:p.Ala678fs					PAPPA_ENST00000534838.1_Intron	p.P678fs	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			5	2401_2402	+			678					B1AMF9|Q08371|Q68G52|Q9UDK7	Frame_Shift_Ins	INS	ENST00000328252.3	37	c.2032_2033insC	CCDS6813.1																																																																																				0.574	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		22	1049						22	1049	---	---	---	---
NUP214	8021	broad.mit.edu	37	9	134073007	134073008	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:134073007_134073008insC	ENST00000359428.5	+	29	4270_4271	c.4126_4127insC	c.(4126-4128)gccfs	p.A1376fs	NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000451030.1_Frame_Shift_Ins_p.A1377fs|NUP214_ENST00000483497.2_Frame_Shift_Ins_p.A202fs|NUP214_ENST00000411637.2_Frame_Shift_Ins_p.A1366fs			P35658	NU214_HUMAN	nucleoporin 214kDa	1376	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TAATTTTACTGCCCCCCCGGTG	0.545			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(4126-4128)cccfs		nucleoporin 214kDa																																				SO:0001589	frameshift_variant	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134073007_134073008insC	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.4133dupC	9.37:g.134073014_134073014dupC	ENSP00000352400:p.Ala1376fs					NUP214_ENST00000483497.2_Frame_Shift_Ins_p.P202fs|NUP214_ENST00000411637.2_Frame_Shift_Ins_p.P1366fs|NUP214_ENST00000451030.1_Frame_Shift_Ins_p.P1377fs|NUP214_ENST00000465486.2_3'UTR	p.P1376fs			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	29	4270_4271	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1376			11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Frame_Shift_Ins	INS	ENST00000359428.5	37	c.4126_4127insC	CCDS6940.1																																																																																				0.545	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		7	248						7	248	---	---	---	---
SEC16A	9919	broad.mit.edu	37	9	139345822	139345823	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:139345822_139345823insG	ENST00000371706.3	-	21	5696_5697	c.5663_5664insC	c.(5662-5664)ccafs	p.P1888fs	SEC16A_ENST00000290037.6_Frame_Shift_Ins_p.P1888fs|SEC16A_ENST00000313050.7_Frame_Shift_Ins_p.P2066fs|SEC16A_ENST00000313084.5_5'Flank|SEC16A_ENST00000431893.2_Frame_Shift_Ins_p.P1888fs|SEC16A_ENST00000398335.1_5'Flank			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1888	Pro-rich.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GATCCCACCCTGGGGGGGCCTC	0.629																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6196-6198)cggfs		SEC16 homolog A (S. cerevisiae)																																				SO:0001589	frameshift_variant	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139345822_139345823insG	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.5664dupC	9.37:g.139345829_139345829dupG	ENSP00000360771:p.Pro1888fs					SEC16A_ENST00000431893.2_Frame_Shift_Ins_p.R1888fs|SEC16A_ENST00000371706.3_Frame_Shift_Ins_p.R1888fs|SEC16A_ENST00000290037.6_Frame_Shift_Ins_p.R1888fs	p.R2066fs	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	21	6270_6271	-		Myeloproliferative disorder(178;0.0511)	1888			Pro-rich.|Required for interaction with SEC23A.		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Frame_Shift_Ins	INS	ENST00000371706.3	37	c.6197_6198insC																																																																																					0.629	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		7	44						7	44	---	---	---	---
TAF3	83860	broad.mit.edu	37	10	8006928	8006929	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:8006928_8006929insC	ENST00000344293.5	+	3	1661_1662	c.1455_1456insC	c.(1456-1458)cccfs	p.P486fs		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	486					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTTCAAATATGCCCCCCAACTT	0.49																																						ENST00000344293.5																			0				NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						c.(1453-1458)atccccfs		TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa																																				SO:0001589	frameshift_variant	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8006928_8006929insC	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.1461dupC	10.37:g.8006934_8006934dupC	ENSP00000340271:p.Pro486fs						p.IP485fs	NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN			3	1661_1662	+			485					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Frame_Shift_Ins	INS	ENST00000344293.5	37	c.1455_1456insC	CCDS41487.1																																																																																				0.490	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		7	315						7	315	---	---	---	---
PIP4K2A	5305	broad.mit.edu	37	10	22830827	22830828	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:22830827_22830828insG	ENST00000376573.4	-	8	1169_1170	c.941_942insC	c.(940-942)ccafs	p.P314fs	PIP4K2A_ENST00000323883.7_Frame_Shift_Ins_p.P174fs|PIP4K2A_ENST00000545335.1_Frame_Shift_Ins_p.P255fs	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	314	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CGGGGCTATCTGGGGGGGTTCC	0.584																																						ENST00000376573.4																			0				endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						c.(940-942)cgafs		phosphatidylinositol-5-phosphate 4-kinase, type II, alpha																																				SO:0001589	frameshift_variant	5305						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	g.chr10:22830827_22830828insG	S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.942dupC	10.37:g.22830834_22830834dupG	ENSP00000365757:p.Pro314fs					PIP4K2A_ENST00000545335.1_Frame_Shift_Ins_p.R255fs|PIP4K2A_ENST00000323883.7_Frame_Shift_Ins_p.R174fs	p.R314fs	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN			8	1169_1170	-			314			PIPK.		B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Frame_Shift_Ins	INS	ENST00000376573.4	37	c.941_942insC	CCDS7141.1																																																																																				0.584	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028		10	145						10	145	---	---	---	---
NCOA4	8031	broad.mit.edu	37	10	51586311	51586312	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:51586311_51586312insC	ENST00000443446.1	+	9	1968_1969	c.1739_1740insC	c.(1738-1743)ttccccfs	p.FP580fs	NCOA4_ENST00000374082.1_Frame_Shift_Ins_p.S535fs|NCOA4_ENST00000374087.4_Frame_Shift_Ins_p.FP580fs|NCOA4_ENST00000430396.2_Frame_Shift_Ins_p.FP480fs|NCOA4_ENST00000414907.2_Frame_Shift_Ins_p.FP414fs|NCOA4_ENST00000452682.1_Frame_Shift_Ins_p.FP596fs|NCOA4_ENST00000344348.6_Frame_Shift_Ins_p.FP580fs|NCOA4_ENST00000438493.1_Frame_Shift_Ins_p.FP596fs	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	580					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GAACATAACTTCCCCCCAGACC	0.416			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(1786-1788)tccfs		nuclear receptor coactivator 4																																				SO:0001589	frameshift_variant	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51586311_51586312insC	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.1745dupC	10.37:g.51586317_51586317dupC	ENSP00000390713:p.Phe580fs					NCOA4_ENST00000374087.4_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000438493.1_Frame_Shift_Ins_p.S596fs|NCOA4_ENST00000414907.2_Frame_Shift_Ins_p.S414fs|NCOA4_ENST00000443446.1_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000374082.1_Frame_Shift_Ins_p.P535fs|NCOA4_ENST00000344348.6_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000430396.2_Frame_Shift_Ins_p.S480fs	p.S596fs	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			10	2039_2040	+			580					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Frame_Shift_Ins	INS	ENST00000443446.1	37	c.1787_1788insC	CCDS7237.1																																																																																				0.416	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		8	182						8	182	---	---	---	---
PALD1	27143	broad.mit.edu	37	10	72292440	72292441	+	Frame_Shift_Ins	INS	-	-	G	rs145337663	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:72292440_72292441insG	ENST00000263563.6	+	6	965_966	c.697_698insG	c.(697-699)tggfs	p.W233fs		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	233						cytosol (GO:0005829)											CGAGGACCTGTGGGGGGAGCCC	0.604																																						ENST00000263563.6																			0											c.(697-699)gggfs		phosphatase domain containing, paladin 1																																				SO:0001589	frameshift_variant	27143							g.chr10:72292440_72292441insG	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.703dupG	10.37:g.72292446_72292446dupG	ENSP00000263563:p.Trp233fs						p.G233fs	NM_014431.2	NP_055246.2					6	965_966	+								B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Frame_Shift_Ins	INS	ENST00000263563.6	37	c.697_698insG	CCDS31215.1																																																																																				0.604	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		14	1042						14	1042	---	---	---	---
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1368_1369insC	c.(1369-1371)ccc>Cccc	p.P457fs	SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.P338fs|SEC24C_ENST00000345254.4_Splice_Site_p.P457fs|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	457					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.51																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.e11-1		SEC24 family member C																																				SO:0001630	splice_region_variant	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75525559_75525560insC	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1367-1->C	10.37:g.75525566_75525566dupC						SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice	p.VP456_splice	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			11	1530_1531	+	Prostate(51;0.0112)		456					B4DZT4|Q8WV25	Splice_Site	INS	ENST00000339365.2	37	c.1366_splice	CCDS7332.1																																																																																				0.510	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1		Frame_Shift_Ins	27	690						27	690	---	---	---	---
NDST2	8509	broad.mit.edu	37	10	75563405	75563406	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:75563405_75563406insC	ENST00000309979.6	-	11	2624_2625	c.2068_2069insG	c.(2068-2070)gctfs	p.A690fs	RP11-574K11.31_ENST00000603027.1_Frame_Shift_Ins_p.A690fs|NDST2_ENST00000299641.4_Frame_Shift_Ins_p.A567fs|ZSWIM8-AS1_ENST00000456638.2_RNA			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	690	Heparan sulfate N-sulfotransferase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					CAGGAGGGCAGCCCCCCGCCGT	0.54																																						ENST00000299641.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(1699-1701)tgcfs		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2																																				SO:0001589	frameshift_variant	8509					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr10:75563405_75563406insC	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.2069dupG	10.37:g.75563411_75563411dupC	ENSP00000310657:p.Ala690fs					NDST2_ENST00000309979.6_Frame_Shift_Ins_p.C690fs	p.C567fs	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN			12	2669_2670	-	Prostate(51;0.0112)		690			Heparan sulfate N-deacetylase 2.		Q2TB32|Q59H89	Frame_Shift_Ins	INS	ENST00000309979.6	37	c.1699_1700insG	CCDS7335.1																																																																																				0.540	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		9	377						9	377	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81072445	81072446	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:81072445_81072446insC	ENST00000334512.5	+	25	3715_3716	c.3143_3144insC	c.(3142-3147)gaccccfs	p.DP1048fs	ZMIZ1_ENST00000446377.2_Frame_Shift_Ins_p.DP114fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1048					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TCTTATCTGGACCCCCCCGACC	0.559																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(3142-3144)gccfs		zinc finger, MIZ-type containing 1																																				SO:0001589	frameshift_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81072445_81072446insC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.3150dupC	10.37:g.81072452_81072452dupC	ENSP00000334474:p.Asp1048fs					ZMIZ1_ENST00000446377.2_Frame_Shift_Ins_p.A114fs	p.A1048fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		25	3715_3716	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		1048					Q5JSH9|Q7Z7E6	Frame_Shift_Ins	INS	ENST00000334512.5	37	c.3143_3144insC	CCDS7357.1																																																																																				0.559	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		10	184						10	184	---	---	---	---
ZFYVE27	118813	broad.mit.edu	37	10	99510176	99510177	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:99510176_99510177insG	ENST00000393677.4	+	7	957_958	c.753_754insG	c.(754-756)gggfs	p.G252fs	ZFYVE27_ENST00000357540.4_Frame_Shift_Ins_p.G166fs|ZFYVE27_ENST00000370610.3_Frame_Shift_Ins_p.G154fs|ZFYVE27_ENST00000359980.3_Frame_Shift_Ins_p.G252fs|ZFYVE27_ENST00000370613.3_Frame_Shift_Ins_p.G134fs|ZFYVE27_ENST00000337540.7_Frame_Shift_Ins_p.G220fs|ZFYVE27_ENST00000453958.2_Frame_Shift_Ins_p.G252fs|ZFYVE27_ENST00000356257.4_Frame_Shift_Ins_p.G252fs	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	252					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		CACCAGATGTTGGGGGGAAGGA	0.599																																						ENST00000393677.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(751-756)gtggggfs		zinc finger, FYVE domain containing 27																																				SO:0001589	frameshift_variant	118813				cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding	g.chr10:99510176_99510177insG	BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"""Zinc fingers, FYVE domain containing"""	26559	protein-coding gene	gene with protein product	"""protrudin"""	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.759dupG	10.37:g.99510182_99510182dupG	ENSP00000377282:p.Gly252fs					ZFYVE27_ENST00000356257.4_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000337540.7_Frame_Shift_Ins_p.VG219fs|ZFYVE27_ENST00000357540.4_Frame_Shift_Ins_p.VG165fs|ZFYVE27_ENST00000370610.3_Frame_Shift_Ins_p.VG153fs|ZFYVE27_ENST00000453958.2_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000359980.3_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000370613.3_Frame_Shift_Ins_p.VG133fs	p.VG251fs	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)	7	957_958	+		Colorectal(252;0.0846)	251					B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Frame_Shift_Ins	INS	ENST00000393677.4	37	c.753_754insG	CCDS31263.1																																																																																				0.599	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2	NM_144588		11	685						11	685	---	---	---	---
HPSE2	60495	broad.mit.edu	37	10	100995502	100995503	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:100995502_100995503insG	ENST00000370552.3	-	1	116_117	c.57_58insC	c.(55-60)cccgcgfs	p.A20fs	HPSE2_ENST00000370549.1_Frame_Shift_Ins_p.A20fs|HPSE2_ENST00000404542.1_Frame_Shift_Ins_p.A20fs|HPSE2_ENST00000370546.1_Frame_Shift_Ins_p.A20fs	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	20					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GCTAGGCACGCGGGGGGGCGGG	0.594																																						ENST00000370552.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(55-60)cccgtgfs		heparanase 2																																				SO:0001589	frameshift_variant	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100995502_100995503insG	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.58dupC	10.37:g.100995509_100995509dupG	ENSP00000359583:p.Ala20fs					HPSE2_ENST00000404542.1_Frame_Shift_Ins_p.V20fs|HPSE2_ENST00000370546.1_Frame_Shift_Ins_p.V20fs|HPSE2_ENST00000370549.1_Frame_Shift_Ins_p.V20fs	p.V20fs	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	1	116_117	-			20					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Frame_Shift_Ins	INS	ENST00000370552.3	37	c.57_58insC	CCDS7477.1																																																																																				0.594	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		8	70						8	70	---	---	---	---
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:101816832_101816833insG	ENST00000370418.3	-	6	1199_1200	c.948_949insC	c.(946-951)cccgaafs	p.E317fs		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	317	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AACTCCTCTTCGGGGGGAAACT	0.47																																						ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(946-951)ccaagafs		carboxypeptidase N, polypeptide 1																																				SO:0001589	frameshift_variant	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101816832_101816833insG	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.949dupC	10.37:g.101816838_101816838dupG	ENSP00000359446:p.Glu317fs						p.R317fs	NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	6	1199_1200	-		Colorectal(252;0.234)	317			Catalytic.		B1AP59	Frame_Shift_Ins	INS	ENST00000370418.3	37	c.948_949insC	CCDS7486.1																																																																																				0.470	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		13	1010						13	1010	---	---	---	---
SEC31B	25956	broad.mit.edu	37	10	102265153	102265154	+	Frame_Shift_Ins	INS	-	-	G	rs372919677		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:102265153_102265154insG	ENST00000370345.3	-	10	1240_1241	c.1143_1144insC	c.(1141-1146)cccaaafs	p.K382fs	SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.K382fs	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	382					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CTAATCCATTTGGGGGGTTTTT	0.49																																						ENST00000370345.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36						c.(1141-1146)ccaatgfs		SEC31 homolog B (S. cerevisiae)																																				SO:0001589	frameshift_variant	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102265153_102265154insG	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1144dupC	10.37:g.102265159_102265159dupG	ENSP00000359370:p.Lys382fs					SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.M382fs	p.M382fs	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	10	1240_1241	-		Colorectal(252;0.117)	382					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Frame_Shift_Ins	INS	ENST00000370345.3	37	c.1143_1144insC	CCDS7495.1																																																																																				0.490	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		7	1394						7	1394	---	---	---	---
SEC31B	25956	broad.mit.edu	37	10	102265254	102265255	+	Splice_Site	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:102265254_102265255insG	ENST00000370345.3	-	10	1142		c.e10-2		SEC31B_ENST00000451524.1_Splice_Site	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)						protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AGAGGAGATCTGGGGGGAAAAG	0.53																																						ENST00000370345.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36						c.e10-2		SEC31 homolog B (S. cerevisiae)																																				SO:0001630	splice_region_variant	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102265254_102265255insG	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1045-2->C	10.37:g.102265260_102265260dupG						SEC31B_ENST00000451524.1_Splice_Site		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	10	1142	-		Colorectal(252;0.117)						B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Splice_Site	INS	ENST00000370345.3	37		CCDS7495.1																																																																																				0.530	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490	Intron	8	310						8	310	---	---	---	---
BTRC	8945	broad.mit.edu	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:103310572_103310573insC	ENST00000370187.3	+	14	1891_1892	c.1773_1774insC	c.(1774-1776)cccfs	p.P592fs	BTRC_ENST00000393441.4_Frame_Shift_Ins_p.P551fs|BTRC_ENST00000493877.1_3'UTR|BTRC_ENST00000408038.2_Frame_Shift_Ins_p.P556fs	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	592			P -> H (in dbSNP:rs2270439).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431																																						ENST00000370187.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(1771-1776)gaccccfs		beta-transducin repeat containing E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103310572_103310573insC	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.1780dupC	10.37:g.103310579_103310579dupC	ENSP00000359206:p.Pro592fs					BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs|BTRC_ENST00000493877.1_3'UTR	p.DP591fs	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	14	1891_1892	+		Colorectal(252;0.234)	591					B5MD49|Q5W141|Q5W142|Q9Y213	Frame_Shift_Ins	INS	ENST00000370187.3	37	c.1773_1774insC	CCDS7512.1																																																																																				0.431	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		16	287						16	287	---	---	---	---
PPRC1	23082	broad.mit.edu	37	10	103906659	103906660	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:103906659_103906660insC	ENST00000278070.2	+	9	3949_3950	c.3910_3911insC	c.(3910-3912)accfs	p.T1304fs	PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Frame_Shift_Ins_p.T271fs|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCGGAGCAGGACCCCCCCAAAA	0.569																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(3910-3912)cccfs		peroxisome proliferator-activated receptor gamma, coactivator-related 1																																				SO:0001589	frameshift_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103906659_103906660insC	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3917dupC	10.37:g.103906666_103906666dupC	ENSP00000278070:p.Thr1304fs					PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Frame_Shift_Ins_p.P271fs|PPRC1_ENST00000489648.1_Intron	p.P1304fs	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	9	3949_3950	+		Colorectal(252;0.122)	1304					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Frame_Shift_Ins	INS	ENST00000278070.2	37	c.3910_3911insC	CCDS7529.1																																																																																				0.569	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		7	132						7	132	---	---	---	---
PDCD11	22984	broad.mit.edu	37	10	105176292	105176293	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:105176292_105176293insA	ENST00000369797.3	+	13	1657_1658	c.1563_1564insA	c.(1564-1566)aaafs	p.K522fs		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	522	S1 motif 5. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGATGACCCTGAAAAAAACCCT	0.485											OREG0020494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(1561-1566)ctaaaafs		programmed cell death 11																																				SO:0001589	frameshift_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105176292_105176293insA	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.1570dupA	10.37:g.105176299_105176299dupA	ENSP00000358812:p.Lys522fs		OREG0020494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1387		p.LK521fs	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	13	1657_1658	+		Colorectal(252;0.0747)|Breast(234;0.128)	521			S1 motif 5.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Frame_Shift_Ins	INS	ENST00000369797.3	37	c.1563_1564insA	CCDS31276.1																																																																																				0.485	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			7	557						7	557	---	---	---	---
LINC00959	387723	broad.mit.edu	37	10	131905959	131905960	+	lincRNA	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:131905959_131905960insG	ENST00000456581.1	-	0	114									long intergenic non-protein coding RNA 959																		CTTTGCCTCCAGGGGGGGAAGG	0.53																																						ENST00000456581.1																			0																																																			387723							g.chr10:131905959_131905960insG			10q26.3	2013-06-06			ENSG00000237489	ENSG00000237489		"""Long non-coding RNAs"""	48677	non-coding RNA	RNA, long non-coding							Standard	NR_034125		Approved				OTTHUMG00000019268		10.37:g.131905966_131905966dupG														0	114	-									RNA	INS	ENST00000456581.1	37																																																																																						0.530	LINC00959-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000051025.1			7	159						7	159	---	---	---	---
TRIM21	6737	broad.mit.edu	37	11	4409704	4409705	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:4409704_4409705insT	ENST00000254436.7	-	4	672_673	c.560_561insA	c.(559-561)aacfs	p.N187fs	TRIM21_ENST00000543625.1_Frame_Shift_Ins_p.N187fs	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	187					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CAACCAGGAAGTTTTTTTGCTG	0.485																																						ENST00000254436.7																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16						c.(559-561)attfs		tripartite motif containing 21																																				SO:0001589	frameshift_variant	6737				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4409704_4409705insT	AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.561dupA	11.37:g.4409711_4409711dupT	ENSP00000254436:p.Asn187fs					TRIM21_ENST00000543625.1_Frame_Shift_Ins_p.I187fs	p.I187fs	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)	4	672_673	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	187					Q5XPV5|Q96RF8	Frame_Shift_Ins	INS	ENST00000254436.7	37	c.560_561insA	CCDS44525.1																																																																																				0.485	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141		7	1223						7	1223	---	---	---	---
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:5602545_5602546insC	ENST00000345043.2	+	1	439_440	c.439_440insC	c.(439-441)tccfs	p.S147fs	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATCTGCTCCCCCCTGCGA	0.51																																						ENST00000345043.2																			0				endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12						c.(439-441)cccfs		olfactory receptor, family 52, subfamily B, member 6																																				SO:0001589	frameshift_variant	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602545_5602546insC	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.445dupC	11.37:g.5602551_5602551dupC	ENSP00000341581:p.Ser147fs					HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	p.P147fs	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	439_440	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	147					Q6IFI7	Frame_Shift_Ins	INS	ENST00000345043.2	37	c.439_440insC	CCDS41611.1																																																																																				0.510	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		28	1474						28	1474	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6655045	6655046	+	Frame_Shift_Ins	INS	-	-	G	rs528648883	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:6655045_6655046insG	ENST00000299441.3	-	4	2603_2604	c.2192_2193insC	c.(2191-2193)ccafs	p.P731fs	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	731	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGTAAAAAGTGGGGGGCTGTT	0.604																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(2191-2193)cctfs		dachsous cadherin-related 1																																				SO:0001589	frameshift_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6655045_6655046insG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.2193dupC	11.37:g.6655051_6655051dupG	ENSP00000299441:p.Pro731fs					RP11-732A19.6_ENST00000526633.1_RNA	p.P731fs	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	2603_2604	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	731			Cadherin 7.		O15098	Frame_Shift_Ins	INS	ENST00000299441.3	37	c.2192_2193insC	CCDS7771.1																																																																																				0.604	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		7	564						7	564	---	---	---	---
ARNTL	406	broad.mit.edu	37	11	13398236	13398237	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:13398236_13398237insC	ENST00000403290.1	+	16	1730_1731	c.1375_1376insC	c.(1375-1377)tccfs	p.S459fs	ARNTL_ENST00000361003.4_Frame_Shift_Ins_p.S341fs|ARNTL_ENST00000403482.3_Frame_Shift_Ins_p.S457fs|ARNTL_ENST00000389707.4_Frame_Shift_Ins_p.S458fs|ARNTL_ENST00000396441.3_Frame_Shift_Ins_p.S458fs|ARNTL_ENST00000403510.3_Frame_Shift_Ins_p.S415fs|ARNTL_ENST00000389708.3_Frame_Shift_Ins_p.P491fs|ARNTL_ENST00000401424.1_Frame_Shift_Ins_p.S416fs			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	459					circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		GCTCACAGCATCCCCCCACAGC	0.584																																						ENST00000389708.3																			0				breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20						c.(1468-1473)caccccfs		aryl hydrocarbon receptor nuclear translocator-like																																				SO:0001589	frameshift_variant	406				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr11:13398236_13398237insC	D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"""Basic helix-loop-helix proteins"""	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.1381dupC	11.37:g.13398242_13398242dupC	ENSP00000384517:p.Ser459fs					ARNTL_ENST00000401424.1_Frame_Shift_Ins_p.P416fs|ARNTL_ENST00000403290.1_Frame_Shift_Ins_p.P459fs|ARNTL_ENST00000403510.3_Frame_Shift_Ins_p.P415fs|ARNTL_ENST00000361003.4_Frame_Shift_Ins_p.P341fs|ARNTL_ENST00000403482.3_Frame_Shift_Ins_p.P457fs|ARNTL_ENST00000396441.3_Frame_Shift_Ins_p.P458fs|ARNTL_ENST00000389707.4_Frame_Shift_Ins_p.P458fs	p.HP490fs			O00327	BMAL1_HUMAN		Epithelial(150;0.0243)	16	1825_1826	+			0					A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Frame_Shift_Ins	INS	ENST00000403290.1	37	c.1470_1471insC																																																																																					0.584	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	NM_001178		9	668						9	668	---	---	---	---
SAAL1	113174	broad.mit.edu	37	11	18124827	18124828	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:18124827_18124828insT	ENST00000524803.1	-	2	250_251	c.201_202insA	c.(199-204)gaagaafs	p.E68fs	SAAL1_ENST00000529318.1_Frame_Shift_Ins_p.E68fs|SAAL1_ENST00000300013.4_Frame_Shift_Ins_p.E68fs|SAAL1_ENST00000533851.1_5'UTR			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	68										breast(2)|large_intestine(5)|lung(8)	15						TTCTCCATTTCTTCATCAAGCT	0.401																																						ENST00000524803.1																			0				breast(2)|large_intestine(5)|lung(8)	15						c.(199-204)gaaaatfs		serum amyloid A-like 1																																				SO:0001589	frameshift_variant	113174				acute-phase response	extracellular region	binding	g.chr11:18124827_18124828insT	AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.202dupA	11.37:g.18124829_18124829dupT	ENSP00000432487:p.Glu68fs					SAAL1_ENST00000529318.1_Frame_Shift_Ins_p.N68fs|SAAL1_ENST00000300013.4_Frame_Shift_Ins_p.N68fs|SAAL1_ENST00000533851.1_5'UTR	p.N68fs			Q96ER3	SAAL1_HUMAN			2	250_251	-			68					A6NH05	Frame_Shift_Ins	INS	ENST00000524803.1	37	c.201_202insA	CCDS31439.1																																																																																				0.401	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389728.1	NM_138421		187	402						187	402	---	---	---	---
APIP	51074	broad.mit.edu	37	11	34904908	34904909	+	Frame_Shift_Ins	INS	-	-	C	rs564123868		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:34904908_34904909insC	ENST00000395787.3	-	6	818_819	c.604_605insG	c.(604-606)gaafs	p.E202fs	APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Frame_Shift_Ins_p.E219fs	NM_015957.2	NP_057041.2			APAF1 interacting protein											kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CTCCCATGTTTCCCCCCACACA	0.45																																						ENST00000395787.3																			0				kidney(2)|lung(1)|skin(1)	4						c.(604-606)aacfs		APAF1 interacting protein																																				SO:0001589	frameshift_variant	51074				apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity	g.chr11:34904908_34904909insC	AF132963	CCDS7895.1	11p13	2014-05-12				ENSG00000149089	4.2.1.109		17581	protein-coding gene	gene with protein product	"""methylthioribulose-1-phosphate dehydratase"""	612491				10810093, 15262985, 24367089	Standard	NM_015957		Approved	CGI-29, Mmrp19, APIP2	uc001mvs.2	Q96GX9		ENST00000395787.3:c.605dupG	11.37:g.34904914_34904914dupC	ENSP00000379133:p.Glu202fs					APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs|APIP_ENST00000527830.1_5'UTR	p.N202fs	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	STAD - Stomach adenocarcinoma(6;0.000425)		6	818_819	-	all_epithelial(35;0.161)	all_hematologic(20;0.107)	202						Frame_Shift_Ins	INS	ENST00000395787.3	37	c.604_605insG	CCDS7895.1																																																																																				0.450	APIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389864.1	NM_015957		10	554						10	554	---	---	---	---
MAPK8IP1	9479	broad.mit.edu	37	11	45923969	45923970	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:45923969_45923970insC	ENST00000241014.2	+	5	821_822	c.651_652insC	c.(652-654)cccfs	p.P218fs	MAPK8IP1_ENST00000395629.2_Frame_Shift_Ins_p.P208fs	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	218	JNK-binding domain (JBD).				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GCGATGAGCTGCCCCCCCAGAG	0.678																																						ENST00000395629.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24						c.(619-624)ctccccfs		mitogen-activated protein kinase 8 interacting protein 1																																				SO:0001589	frameshift_variant	9479				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	g.chr11:45923969_45923970insC		CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.658dupC	11.37:g.45923976_45923976dupC	ENSP00000241014:p.Pro218fs					MAPK8IP1_ENST00000241014.2_Frame_Shift_Ins_p.LP217fs	p.LP207fs			Q9UQF2	JIP1_HUMAN		GBM - Glioblastoma multiforme(35;0.231)	5	951_952	+			217			JNK-binding domain (JBD).		D3DQP4|O43407	Frame_Shift_Ins	INS	ENST00000241014.2	37	c.621_622insC	CCDS7916.1																																																																																				0.678	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456		3	6						3	6	---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46880747	46880748	+	Frame_Shift_Ins	INS	-	-	C	rs560166088		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:46880747_46880748insC	ENST00000378623.1	-	38	5746_5747	c.5504_5505insG	c.(5503-5505)ggcfs	p.G1835fs	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1835					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCCGGAGGAGGCCCCCCCGTGA	0.564																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(5503-5505)gctfs		low density lipoprotein receptor-related protein 4																																				SO:0001589	frameshift_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46880747_46880748insC	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.5505dupG	11.37:g.46880754_46880754dupC	ENSP00000367888:p.Gly1835fs					LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	p.A1835fs	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	38	5746_5747	-			1835					B2RN39|Q4AC85|Q5KTZ5	Frame_Shift_Ins	INS	ENST00000378623.1	37	c.5504_5505insG	CCDS31478.1																																																																																				0.564	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		9	222						9	222	---	---	---	---
C11orf49	79096	broad.mit.edu	37	11	47074000	47074001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:47074000_47074001insC	ENST00000278460.7	+	3	270_271	c.211_212insC	c.(211-213)accfs	p.T71fs	C11orf49_ENST00000543718.1_Intron|C11orf49_ENST00000378615.3_Frame_Shift_Ins_p.T71fs|C11orf49_ENST00000378618.2_Frame_Shift_Ins_p.T71fs|C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000395460.2_Frame_Shift_Ins_p.T71fs	NM_001003677.1|NM_024113.3	NP_001003677.1|NP_077018.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	71						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						CGTCCAAGCCACCCCCCACAAT	0.441																																						ENST00000395460.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						c.(211-213)cccfs		chromosome 11 open reading frame 49			,,,	1,4263		0,1,2131					,,,	6.0	1.0			144	0,8254		0,0,4127	no	frameshift,frameshift,frameshift,frameshift	C11orf49	NM_024113.3,NM_001003678.1,NM_001003677.1,NM_001003676.1	,,,	0,1,6258	A1A1,A1R,RR		0.0,0.0235,0.0080	,,,	,,,		1,12517				SO:0001589	frameshift_variant	79096							g.chr11:47074000_47074001insC	AL136575	CCDS7925.1, CCDS31479.1, CCDS31480.1, CCDS41641.1	11p11.2	2006-02-02			ENSG00000149179	ENSG00000149179			28720	protein-coding gene	gene with protein product							Standard	NM_001003677		Approved	FLJ22210, MGC4707	uc001ndr.4	Q9H6J7	OTTHUMG00000166725	ENST00000278460.7:c.217dupC	11.37:g.47074006_47074006dupC	ENSP00000278460:p.Thr71fs					C11orf49_ENST00000278460.7_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000378618.2_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000378615.3_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000543718.1_Intron	p.P71fs	NM_001003676.1	NP_001003676.1	Q9H6J7	CK049_HUMAN			3	249_250	+			71					D3DQQ8|E9PAX7|Q7L077|Q96CS8|Q9BQH4|Q9BUW5	Frame_Shift_Ins	INS	ENST00000278460.7	37	c.211_212insC	CCDS7925.1																																																																																				0.441	C11orf49-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391218.1	NM_024113		9	427						9	427	---	---	---	---
NR1H3	10062	broad.mit.edu	37	11	47282886	47282887	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:47282886_47282887insC	ENST00000467728.1	+	4	1832_1833	c.594_595insC	c.(595-597)cccfs	p.P199fs	NR1H3_ENST00000405853.3_Frame_Shift_Ins_p.P199fs|NR1H3_ENST00000441012.2_Frame_Shift_Ins_p.P199fs|NR1H3_ENST00000405576.1_Frame_Shift_Ins_p.P154fs|NR1H3_ENST00000481889.2_Frame_Shift_Ins_p.P154fs|NR1H3_ENST00000407404.1_Frame_Shift_Ins_p.P199fs|NR1H3_ENST00000395397.3_Frame_Shift_Ins_p.P154fs|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000527949.1_Frame_Shift_Ins_p.P108fs			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	199					apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GGGCTTCCTCACCCCCCCAAAT	0.594																																						ENST00000467728.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						c.(592-597)tcccccfs		nuclear receptor subfamily 1, group H, member 3			,,	9,4255		0,9,2123					,,	-10.7	0.0			55	7,8247		0,7,4120	no	frameshift,frameshift,frameshift	NR1H3	NM_005693.2,NM_001130102.1,NM_001130101.1	,,	0,16,6243	A1A1,A1R,RR		0.0848,0.2111,0.1278	,,	,,		16,12502				SO:0001589	frameshift_variant	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47282886_47282887insC	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.601dupC	11.37:g.47282893_47282893dupC	ENSP00000420656:p.Pro199fs					NR1H3_ENST00000405853.3_Frame_Shift_Ins_p.SP198fs|NR1H3_ENST00000407404.1_Frame_Shift_Ins_p.SP198fs|NR1H3_ENST00000527949.1_Frame_Shift_Ins_p.SP107fs|NR1H3_ENST00000395397.3_Frame_Shift_Ins_p.SP153fs|NR1H3_ENST00000441012.2_Frame_Shift_Ins_p.SP198fs|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405576.1_Frame_Shift_Ins_p.SP153fs|NR1H3_ENST00000481889.2_Frame_Shift_Ins_p.SP153fs	p.SP198fs			Q13133	NR1H3_HUMAN			4	1832_1833	+			198					A8K3J9|D3DQR1|Q8IW13|Q96H87	Frame_Shift_Ins	INS	ENST00000467728.1	37	c.594_595insC	CCDS7929.1																																																																																				0.594	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			10	83						10	83	---	---	---	---
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:57185234_57185235insG	ENST00000395123.2	-	8	961_962	c.657_658insC	c.(655-660)cccaacfs	p.N220fs	SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.N233fs|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.N220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.N220fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.N220fs|SLC43A3_ENST00000528098.1_5'UTR	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	220					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TAGCTGTAGTTGGGGGGCAGTG	0.564																																						ENST00000395123.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(655-660)ccactafs		solute carrier family 43, member 3																																				SO:0001589	frameshift_variant	29015				transmembrane transport	integral to membrane		g.chr11:57185234_57185235insG	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.658dupC	11.37:g.57185240_57185240dupG	ENSP00000378555:p.Asn220fs					SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs	p.L220fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN			8	961_962	-			220					B4DNR8|E7EQD2|Q9NSS4	Frame_Shift_Ins	INS	ENST00000395123.2	37	c.657_658insC	CCDS7956.1																																																																																				0.564	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		16	460						16	460	---	---	---	---
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(385-387)cccfs	p.P129fs	TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Frame_Shift_Ins_p.P91fs|C11orf31_ENST00000534355.1_5'Flank	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	129	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGACGTGCAAACCCCCCCTATA	0.421																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(382-387)aaccccfs		thioredoxin-related transmembrane protein 2																																				SO:0001589	frameshift_variant	51075				cell redox homeostasis	integral to membrane		g.chr11:57505845_57505846insC	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.391dupC	11.37:g.57505852_57505852dupC	ENSP00000278422:p.Pro129fs					TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs|TMX2-CTNND1_ENST00000528395.1_Intron	p.NP128fs	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN			4	396_397	+			128			Thioredoxin.		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Frame_Shift_Ins	INS	ENST00000278422.4	37	c.384_385insC	CCDS7967.1																																																																																				0.421	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		15	482						15	482	---	---	---	---
BEST1	7439	broad.mit.edu	37	11	61727447	61727448	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:61727447_61727448insC	ENST00000378043.4	+	9	1675_1676	c.1032_1033insC	c.(1033-1035)cccfs	p.P345fs	BEST1_ENST00000526988.1_Frame_Shift_Ins_p.SP306fs|BEST1_ENST00000378042.3_Frame_Shift_Ins_p.P258fs|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000435278.2_Intron|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000301774.9_Intron|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000449131.2_Frame_Shift_Ins_p.P285fs	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	345					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CCGAGCCACAGCCCCCCTACAC	0.624																																						ENST00000449131.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(850-855)caccccfs		bestrophin 1																																				SO:0001589	frameshift_variant	7439				response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity	g.chr11:61727447_61727448insC	AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	12703	protein-coding gene	gene with protein product	"""Best disease"""	607854	"""vitelliform macular dystrophy 2"""	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1038dupC	11.37:g.61727453_61727453dupC	ENSP00000367282:p.Pro345fs					BEST1_ENST00000526988.1_Frame_Shift_Ins_p.T306fs|BEST1_ENST00000534553.1_Intron|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000435278.2_Intron|BEST1_ENST00000378042.3_Frame_Shift_Ins_p.HP257fs|BEST1_ENST00000378043.4_Frame_Shift_Ins_p.HP344fs|BEST1_ENST00000301774.9_Intron	p.HP284fs	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN			8	938_939	+			344					A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Frame_Shift_Ins	INS	ENST00000378043.4	37	c.852_853insC	CCDS31580.1																																																																																				0.624	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		17	1030						17	1030	---	---	---	---
BSCL2	26580	broad.mit.edu	37	11	62458782	62458783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:62458782_62458783insC	ENST00000403550.1	-	7	1205_1206	c.782_783insG	c.(781-783)ggcfs	p.G261fs	BSCL2_ENST00000278893.7_Intron|LRRN4CL_ENST00000317449.4_5'Flank|BSCL2_ENST00000433053.1_Frame_Shift_Ins_p.G325fs|BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.G261fs|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.G325fs|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.G325fs|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.G261fs			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	261					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GGGGCCAGATGCCCCCCCACAC	0.559																																						ENST00000433053.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12	GRCh37	CI033285	BSCL2	I		c.(973-975)gatfs		Berardinelli-Seip congenital lipodystrophy 2 (seipin)			,,	12,4252		0,12,2120					,,	3.3	0.9			68	10,8244		0,10,4117	no	frameshift,intron,frameshift	BSCL2	NM_032667.6,NM_001130702.2,NM_001122955.3	,,	0,22,6237	A1A1,A1R,RR		0.1212,0.2814,0.1757	,,	,,		22,12496				SO:0001589	frameshift_variant	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62458782_62458783insC		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.783dupG	11.37:g.62458789_62458789dupC	ENSP00000385561:p.Gly261fs					BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000278893.7_Intron|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.D325fs|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000403550.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.D261fs	p.D325fs			Q96G97	BSCL2_HUMAN			8	1530_1531	-			261					G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Frame_Shift_Ins	INS	ENST00000403550.1	37	c.974_975insG	CCDS8031.1																																																																																				0.559	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		8	288						8	288	---	---	---	---
RASGRP2	10235	broad.mit.edu	37	11	64507637	64507638	+	Splice_Site	INS	-	-	G	rs376998176		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:64507637_64507638insG	ENST00000354024.3	-	6	624		c.e6-2		RASGRP2_ENST00000377497.3_Splice_Site|RASGRP2_ENST00000377494.1_Splice_Site|RASGRP2_ENST00000394432.3_Splice_Site	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)						blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAGGTAGGGCTGGGGGGGCAGG	0.569																																						ENST00000377494.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e5-2		RAS guanyl releasing protein 2 (calcium and DAG-regulated)																																				SO:0001630	splice_region_variant	10235				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	g.chr11:64507637_64507638insG	U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.372-2->C	11.37:g.64507644_64507644dupG						RASGRP2_ENST00000377497.3_Splice_Site|RASGRP2_ENST00000394432.3_Splice_Site|RASGRP2_ENST00000354024.3_Splice_Site				Q7LDG7	GRP2_HUMAN			5	1294	-								A6NDC7|O00538|Q9UL65	Splice_Site	INS	ENST00000354024.3	37		CCDS31598.1																																																																																				0.569	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819	Intron	7	181						7	181	---	---	---	---
RAB1B	81876	broad.mit.edu	37	11	66039887	66039888	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:66039887_66039888insG	ENST00000311481.6	+	4	382_383	c.235_236insG	c.(235-237)cggfs	p.R79fs	RAB1B_ENST00000527397.1_Intron|RP11-867G23.3_ENST00000501708.1_lincRNA	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	79	Switch 2 region; required for interaction with REP1/CHM.				ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CAGCTACTACCGGGGGGCTCAT	0.579																																						ENST00000311481.6																			0				large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						c.(235-237)gggfs		RAB1B, member RAS oncogene family																																				SO:0001589	frameshift_variant	81876				protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding	g.chr11:66039887_66039888insG	AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"""RAB, member RAS oncogene"""	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.241dupG	11.37:g.66039893_66039893dupG	ENSP00000310226:p.Arg79fs					RP11-867G23.3_ENST00000501708.1_lincRNA|RAB1B_ENST00000527397.1_Intron	p.G79fs	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN			4	382_383	+			79			Switch 2 region; required for interaction with REP1/CHM.		A8K7S1	Frame_Shift_Ins	INS	ENST00000311481.6	37	c.235_236insG	CCDS31613.1																																																																																				0.579	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391886.2	NM_030981		11	374						11	374	---	---	---	---
CCS	9973	broad.mit.edu	37	11	66366957	66366958	+	Frame_Shift_Ins	INS	-	-	G	rs61731811	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:66366957_66366958insG	ENST00000533244.1	+	4	719_720	c.278_279insG	c.(277-282)ctggggfs	p.LG93fs	CCS_ENST00000310190.4_Frame_Shift_Ins_p.LG74fs	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	93	Superoxide dismutase-like.				copper ion transmembrane transport (GO:0035434)|intracellular copper ion transport (GO:0015680)|positive regulation of oxidoreductase activity (GO:0051353)|removal of superoxide radicals (GO:0019430)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|protein disulfide oxidoreductase activity (GO:0015035)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GTGGCCATCCTGGGGGGGCCTG	0.644																																						ENST00000533244.1																			0				breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						c.(277-279)cggfs		copper chaperone for superoxide dismutase																																				SO:0001589	frameshift_variant	9973				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding	g.chr11:66366957_66366958insG	AF002210	CCDS8146.1	11q13.2	2012-09-20			ENSG00000173992	ENSG00000173992			1613	protein-coding gene	gene with protein product		603864				9295278	Standard	NM_005125		Approved		uc001oir.3	O14618	OTTHUMG00000167238	ENST00000533244.1:c.285dupG	11.37:g.66366964_66366964dupG	ENSP00000436318:p.Leu93fs					CCS_ENST00000310190.4_Frame_Shift_Ins_p.R74fs	p.R93fs	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN			4	719_720	+			93			Superoxide dismutase-like.		Q2M366|Q8NEV0	Frame_Shift_Ins	INS	ENST00000533244.1	37	c.278_279insG	CCDS8146.1																																																																																				0.644	CCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393826.1	NM_005125		8	168						8	168	---	---	---	---
PPFIA1	8500	broad.mit.edu	37	11	70194406	70194407	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:70194406_70194407insC	ENST00000253925.7	+	16	2258_2259	c.2043_2044insC	c.(2044-2046)cccfs	p.P682fs	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Frame_Shift_Ins_p.P682fs	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	682					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGAGCTCCATTCCCCCCTACCC	0.554																																						ENST00000253925.7																			0				breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(2041-2046)atccccfs		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1																																				SO:0001589	frameshift_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70194406_70194407insC	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2049dupC	11.37:g.70194412_70194412dupC	ENSP00000253925:p.Pro682fs					PPFIA1_ENST00000389547.3_Frame_Shift_Ins_p.IP681fs|AP000487.6_ENST00000528607.1_RNA	p.IP681fs	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		16	2258_2259	+			681					A6NLE3|Q13135|Q14567|Q8N4I2	Frame_Shift_Ins	INS	ENST00000253925.7	37	c.2043_2044insC	CCDS31627.1																																																																																				0.554	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		7	828						7	828	---	---	---	---
MYO7A	4647	broad.mit.edu	37	11	76867057	76867058	+	Frame_Shift_Ins	INS	-	-	C	rs111033187|rs377214759		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:76867057_76867058insC	ENST00000409709.3	+	5	662_663	c.390_391insC	c.(391-393)cccfs	p.P131fs	MYO7A_ENST00000458637.2_Frame_Shift_Ins_p.P131fs|MYO7A_ENST00000409619.2_Frame_Shift_Ins_p.P120fs|MYO7A_ENST00000409893.1_Frame_Shift_Ins_p.P131fs	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	131	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTGGGGAGATGCCCCCCCACAT	0.564																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(388-393)atccccfs		myosin VIIA			,,	18,3916		0,18,1949				http://www.ncbi.nlm.nih.gov/sites/varvu?gene	,,	5.1	1.0		dbSNP_132	51	12,8042		0,12,4015	no	frameshift,frameshift,frameshift	MYO7A	NM_001127180.1,NM_001127179.2,NM_000260.3	,,	0,30,5964	A1A1,A1R,RR		0.149,0.4575,0.2503	,,	,,		30,11958				SO:0001589	frameshift_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76867057_76867058insC	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.397dupC	11.37:g.76867064_76867064dupC	ENSP00000386331:p.Pro131fs					MYO7A_ENST00000458637.2_Frame_Shift_Ins_p.IP130fs|MYO7A_ENST00000409893.1_Frame_Shift_Ins_p.IP130fs|MYO7A_ENST00000409619.2_Frame_Shift_Ins_p.IP119fs	p.IP130fs	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			5	662_663	+			130			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Frame_Shift_Ins	INS	ENST00000409709.3	37	c.390_391insC	CCDS53683.1																																																																																				0.564	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		7	73						7	73	---	---	---	---
SYTL2	54843	broad.mit.edu	37	11	85435355	85435356	+	Intron	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:85435355_85435356insG	ENST00000528231.1	-	8	1737				SYTL2_ENST00000359152.5_Frame_Shift_Ins_p.P1239fs|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.P715fs|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.P715fs|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CCCTGTCCTCTGGGGGGGTTAC	0.48																																						ENST00000359152.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(3715-3717)cgafs		synaptotagmin-like 2																																				SO:0001627	intron_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85435355_85435356insG	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1460-3353->C	11.37:g.85435362_85435362dupG						SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000527523.1_Intron	p.R1239fs	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	1	3715_3716	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	400					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Frame_Shift_Ins	INS	ENST00000528231.1	37	c.3716_3717insC	CCDS53688.1																																																																																				0.480	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		11	190						11	190	---	---	---	---
CUL5	8065	broad.mit.edu	37	11	107940858	107940859	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:107940858_107940859delAT	ENST00000393094.2	+	8	1432_1433	c.816_817delAT	c.(814-819)tcatttfs	p.F273fs		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	273					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TGGTGACATCATTTAAAGAGAC	0.347																																						ENST00000393094.2																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(814-819)tcttfs		cullin 5																																				SO:0001589	frameshift_variant	8065				cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	g.chr11:107940858_107940859delAT	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.816_817delAT	11.37:g.107940858_107940859delAT	ENSP00000376808:p.Phe273fs						p.SF272fs	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	8	1432_1433	+		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	272					A8K960|O14766|Q9BZC6	Frame_Shift_Del	DEL	ENST00000393094.2	37	c.816_817delAT	CCDS31668.1																																																																																				0.347	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			37	373						37	373	---	---	---	---
RDX	5962	broad.mit.edu	37	11	110104136	110104137	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:110104136_110104137insG	ENST00000343115.4	-	13	1731_1732	c.1412_1413insC	c.(1411-1413)cctfs	p.P471fs	RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs|RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	471	Glu-rich.|Poly-Pro.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTGGAGGTGGAGGGGGGGCAGA	0.431																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18						c.(1411-1413)cccfs		radixin																																				SO:0001589	frameshift_variant	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110104136_110104137insG	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.1413dupC	11.37:g.110104143_110104143dupG	ENSP00000342830:p.Pro471fs					RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000530301.1_Intron	p.P471fs	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	13	1731_1732	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	471			Glu-rich.|Poly-Pro.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Frame_Shift_Ins	INS	ENST00000343115.4	37	c.1412_1413insC	CCDS8343.1																																																																																				0.431	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		9	379						9	379	---	---	---	---
PHLDB1	23187	broad.mit.edu	37	11	118495753	118495754	+	Frame_Shift_Ins	INS	-	-	C	rs267602716		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:118495753_118495754insC	ENST00000361417.2	+	6	870_871	c.459_460insC	c.(460-462)cccfs	p.P154fs	PHLDB1_ENST00000356063.5_Frame_Shift_Ins_p.P154fs	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	154										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GAGCCCCTGGGCCCCCCTACAG	0.609																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(457-462)ggccccfs		pleckstrin homology-like domain, family B, member 1																																				SO:0001589	frameshift_variant	23187							g.chr11:118495753_118495754insC		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.465dupC	11.37:g.118495759_118495759dupC	ENSP00000354498:p.Pro154fs					PHLDB1_ENST00000356063.5_Frame_Shift_Ins_p.GP153fs	p.GP153fs	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	6	870_871	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	153					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Frame_Shift_Ins	INS	ENST00000361417.2	37	c.459_460insC	CCDS8401.1																																																																																				0.609	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		16	1269						16	1269	---	---	---	---
DDX6	1656	broad.mit.edu	37	11	118629613	118629614	+	Splice_Site	INS	-	-	G	rs200755405		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:118629613_118629614insG	ENST00000526070.2	-	9	1225		c.e9-2		DDX6_ENST00000534980.1_Splice_Site|DDX6_ENST00000264018.4_Splice_Site	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6						cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL																																	ENST00000264018.4				Dom	yes		11	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6			L	IGH@		B-NHL		0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13						c.e9-2		DEAD (Asp-Glu-Ala-Asp) box helicase 6				28,3478		0,28,1725						5.8	1.0			104	55,7749		0,55,3847	no	splice-3	DDX6	NM_004397.4		0,83,5572	A1A1,A1R,RR		0.7048,0.7986,0.7339				83,11227				SO:0001630	splice_region_variant	1656				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	g.chr11:118629613_118629614insG	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.865-2->C	11.37:g.118629621_118629621dupG						DDX6_ENST00000534980.1_Splice_Site|DDX6_ENST00000526070.2_Splice_Site		NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	9	1170	-	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)						Q5D048	Splice_Site	INS	ENST00000526070.2	37		CCDS44751.1																																																																																				0.426	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397	Intron	9	151						9	151	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)gccfs	p.A23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCGCTGGACGCCCCCCTCTTT	0.589																																						ENST00000431524.1																			1	Substitution - Missense(1)	p.A23T(1)	endometrium(1)	breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(67-69)cccfs		olfactory receptor, family 10, subfamily G, member 8																																				SO:0001589	frameshift_variant	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900396_123900397insC	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.73dupC	11.37:g.123900402_123900402dupC	ENSP00000389072:p.Ala23fs						p.P23fs	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	100_101	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	23					B2RNJ3|Q6IEV2	Frame_Shift_Ins	INS	ENST00000431524.1	37	c.67_68insC	CCDS31704.1																																																																																				0.589	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		16	1877						16	1877	---	---	---	---
FLI1	2313	broad.mit.edu	37	11	128680804	128680805	+	Frame_Shift_Ins	INS	-	-	G	rs374370811|rs531254948		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:128680804_128680805insG	ENST00000527786.2	+	9	1769_1770	c.1280_1281insG	c.(1279-1284)acggggfs	p.TG427fs	FLI1_ENST00000281428.8_Frame_Shift_Ins_p.TG361fs|FLI1_ENST00000534087.2_Frame_Shift_Ins_p.TG394fs|FLI1_ENST00000344954.6_Frame_Shift_Ins_p.TG394fs|FLI1_ENST00000525560.1_Frame_Shift_Ins_p.TG234fs	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	427					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		ACCTCCCCCACGGGGGGAATCT	0.564			T	EWSR1	Ewing sarcoma																																	ENST00000344954.6				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2569)	0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31						c.(1180-1182)aggfs		Fli-1 proto-oncogene, ETS transcription factor																																				SO:0001589	frameshift_variant	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128680804_128680805insG	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.1286dupG	11.37:g.128680810_128680810dupG	ENSP00000433488:p.Thr427fs					FLI1_ENST00000281428.8_Frame_Shift_Ins_p.R361fs|FLI1_ENST00000534087.1_Frame_Shift_Ins_p.R394fs|FLI1_ENST00000525560.1_Frame_Shift_Ins_p.R234fs|FLI1_ENST00000429175.2_Frame_Shift_Ins_p.R427fs	p.R394fs			Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	9	1569_1570	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	427					B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Frame_Shift_Ins	INS	ENST00000527786.2	37	c.1181_1182insG	CCDS44768.1																																																																																				0.564	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		7	324						7	324	---	---	---	---
NCAPD3	23310	broad.mit.edu	37	11	134048585	134048586	+	Frame_Shift_Ins	INS	-	-	G	rs138442478		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:134048585_134048586insG	ENST00000534548.2	-	22	2789_2790	c.2725_2726insC	c.(2725-2727)cagfs	p.Q909fs	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.Q909fs*12(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTCTGACCTGGGGGGGTGGC	0.525																																						ENST00000534548.2																			1	Insertion - Frameshift(1)	p.Q909fs*12(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2725-2727)ggtfs		non-SMC condensin II complex, subunit D3																																				SO:0001589	frameshift_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134048585_134048586insG	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2726dupC	11.37:g.134048592_134048592dupG	ENSP00000433681:p.Gln909fs						p.G909fs	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	22	2789_2790	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	909					A6NFS2|Q4KMQ9	Frame_Shift_Ins	INS	ENST00000534548.2	37	c.2725_2726insC	CCDS31723.1																																																																																				0.525	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		8	224						8	224	---	---	---	---
NCAPD3	23310	broad.mit.edu	37	11	134062758	134062759	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:134062758_134062759insC	ENST00000534548.2	-	16	1934_1935	c.1870_1871insG	c.(1870-1872)gtgfs	p.V624fs		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	624					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CACCGGGACCACCCCCCGCAAC	0.54																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1870-1872)ggtfs		non-SMC condensin II complex, subunit D3																																				SO:0001589	frameshift_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134062758_134062759insC	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1871dupG	11.37:g.134062764_134062764dupC	ENSP00000433681:p.Val624fs						p.G624fs	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	16	1934_1935	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	624					A6NFS2|Q4KMQ9	Frame_Shift_Ins	INS	ENST00000534548.2	37	c.1870_1871insG	CCDS31723.1																																																																																				0.540	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		13	447						13	447	---	---	---	---
GLB1L3	112937	broad.mit.edu	37	11	134181004	134181005	+	Frame_Shift_Ins	INS	-	-	C	rs370128549		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:134181004_134181005insC	ENST00000431683.2	+	13	1227_1228	c.1227_1228insC	c.(1228-1230)cccfs	p.P410fs		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	410					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		AGGCTGTGTATCCCCCCGTGAG	0.604																																						ENST00000431683.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13						c.(1225-1230)taccccfs		galactosidase, beta 1-like 3																																				SO:0001589	frameshift_variant	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134181004_134181005insC		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1233dupC	11.37:g.134181010_134181010dupC	ENSP00000396615:p.Pro410fs						p.YP409fs	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	13	1227_1228	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	409					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Frame_Shift_Ins	INS	ENST00000431683.2	37	c.1227_1228insC	CCDS44780.1																																																																																				0.604	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		7	958						7	958	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6153463	6153464	+	Frame_Shift_Ins	INS	-	-	G	rs62643632|rs62643631	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:6153463_6153464insG	ENST00000261405.5	-	18	2689_2690	c.2435_2436insC	c.(2434-2436)ccgfs	p.P812fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	812	E1.|TIL 3.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCACCATGCCCGGGGGGCAGAG	0.594																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129	GRCh37	CD920917|CM074633	VWF	D|M	rs137990643	c.(2434-2436)cggfs		von Willebrand factor	Antihemophilic Factor(DB00025)																																			SO:0001589	frameshift_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6153463_6153464insG		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2436dupC	12.37:g.6153469_6153469dupG	ENSP00000261405:p.Pro812fs						p.R812fs	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			18	2689_2690	-			812			E1.|TIL 3.		Q8TCE8|Q99806	Frame_Shift_Ins	INS	ENST00000261405.5	37	c.2435_2436insC	CCDS8539.1																																																																																				0.594	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		7	443						7	443	---	---	---	---
CD4	920	broad.mit.edu	37	12	6923985	6923986	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:6923985_6923986insC	ENST00000011653.4	+	5	692_693	c.434_435insC	c.(433-438)agccccfs	p.SP145fs	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.SP90fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	145	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	ACCTTGGAGAGCCCCCCTGGTA	0.579																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(433-435)accfs		CD4 molecule																																				SO:0001589	frameshift_variant	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6923985_6923986insC	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.440dupC	12.37:g.6923991_6923991dupC	ENSP00000011653:p.Ser145fs					CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.T90fs	p.T145fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN			5	692_693	+		Myeloproliferative disorder(1001;0.0122)	145			Ig-like C2-type 1.		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Frame_Shift_Ins	INS	ENST00000011653.4	37	c.434_435insC	CCDS8562.1																																																																																				0.579	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		7	1447						7	1447	---	---	---	---
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-495)caggggfs	p.QG164fs	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.QG109fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	AAAAACATACAGGGGGGGAAGA	0.564																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(490-492)cggfs		CD4 molecule																																				SO:0001589	frameshift_variant	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6924042_6924043insG	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.498dupG	12.37:g.6924049_6924049dupG	ENSP00000011653:p.Gln164fs					CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs	p.R164fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN			5	749_750	+		Myeloproliferative disorder(1001;0.0122)	164			Ig-like C2-type 1.		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Frame_Shift_Ins	INS	ENST00000011653.4	37	c.491_492insG	CCDS8562.1																																																																																				0.564	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		20	606						20	606	---	---	---	---
CD4	920	broad.mit.edu	37	12	6927635	6927636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:6927635_6927636insG	ENST00000011653.4	+	8	1463_1464	c.1205_1206insG	c.(1204-1209)ctggggfs	p.LG402fs		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	402					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	CTGATTGTGCTGGGGGGCGTCG	0.629																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(1204-1206)cggfs		CD4 molecule																																				SO:0001589	frameshift_variant	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6927635_6927636insG	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.1211dupG	12.37:g.6927641_6927641dupG	ENSP00000011653:p.Leu402fs						p.R402fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN			8	1463_1464	+		Myeloproliferative disorder(1001;0.0122)	402					B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Frame_Shift_Ins	INS	ENST00000011653.4	37	c.1205_1206insG	CCDS8562.1																																																																																				0.629	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		7	407						7	407	---	---	---	---
M6PR	4074	broad.mit.edu	37	12	9095101	9095102	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:9095101_9095102insC	ENST00000000412.3	-	6	1089_1090	c.621_622insG	c.(619-624)gggttcfs	p.F208fs		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	208					endosome to lysosome transport (GO:0008333)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	mannose binding (GO:0005537)|mannose transmembrane transporter activity (GO:0015578)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)	Alglucosidase alfa(DB01272)	TGGTATAGGAACCCCCCAACAA	0.45																																						ENST00000000412.3																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11						c.(619-624)ggtcctfs		mannose-6-phosphate receptor (cation dependent)																																				SO:0001589	frameshift_variant	4074				endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity	g.chr12:9095101_9095102insC		CCDS8598.1, CCDS73440.1	12p13.31	2013-09-20			ENSG00000003056	ENSG00000003056			6752	protein-coding gene	gene with protein product		154540					Standard	NM_002355		Approved		uc001qvf.3	P20645	OTTHUMG00000168276	ENST00000000412.3:c.622dupG	12.37:g.9095107_9095107dupC	ENSP00000000412:p.Phe208fs						p.P208fs	NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0146)	6	1089_1090	-		Hepatocellular(102;0.137)	208					A8K528|D3DUV5	Frame_Shift_Ins	INS	ENST00000000412.3	37	c.621_622insG	CCDS8598.1																																																																																				0.450	M6PR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399130.1			7	563						7	563	---	---	---	---
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:13142224_13142225insC	ENST00000014930.4	-	2	361_362	c.203_204insG	c.(202-204)ggcfs	p.G68fs	HEBP1_ENST00000536942.1_Frame_Shift_Ins_p.G68fs	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554																																						ENST00000536942.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7						c.(202-204)gacfs		heme binding protein 1																																				SO:0001589	frameshift_variant	50865				circadian rhythm	extracellular region		g.chr12:13142224_13142225insC	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771	ENST00000014930.4:c.204dupG	12.37:g.13142230_13142230dupC	ENSP00000014930:p.Gly68fs					HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs	p.D68fs			Q9NRV9	HEBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.153)	2	353_354	-		Prostate(47;0.183)	68					A8K1G2|Q9Y5Z5	Frame_Shift_Ins	INS	ENST00000014930.4	37	c.203_204insG	CCDS31749.1																																																																																				0.554	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			34	1659						34	1659	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206|rs398122823		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:14019043_14019044insG	ENST00000609686.1	-	2	308_309	c.99_100insC	c.(97-102)cccagcfs	p.S34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATGCCAATGCTGGGGGGGCTCT	0.589																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(97-102)ccgcatfs		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)																																			SO:0001589	frameshift_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:14019043_14019044insG		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.100dupC	12.37:g.14019050_14019050dupG	ENSP00000477455:p.Ser34fs						p.H34fs	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			2	308_309	-			34					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Frame_Shift_Ins	INS	ENST00000609686.1	37	c.99_100insC	CCDS8662.1																																																																																				0.589	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			11	192						11	192	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49445525	49445526	+	Frame_Shift_Ins	INS	-	-	G	rs200088180		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:49445525_49445526insG	ENST00000301067.7	-	10	1939_1940	c.1940_1941insC	c.(1939-1941)ccafs	p.P647fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	647	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ATACCTCAGGTGGGGGGGACAT	0.634																																						ENST00000301067.7																			0											c.(1939-1941)cccfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49445525_49445526insG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1941dupC	12.37:g.49445532_49445532dupG	ENSP00000301067:p.Pro647fs						p.P647fs	NM_003482.3	NP_003473.3					10	1939_1940	-								O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	c.1940_1941insC	CCDS44873.1																																																																																				0.634	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			10	255						10	255	---	---	---	---
AAAS	8086	broad.mit.edu	37	12	53715141	53715142	+	Frame_Shift_Ins	INS	-	-	G	rs138043864		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:53715141_53715142insG	ENST00000209873.4	-	1	273_274	c.108_109insC	c.(106-111)cccgacfs	p.D37fs	AAAS_ENST00000550286.1_Intron|AAAS_ENST00000394384.3_Frame_Shift_Ins_p.D37fs|AAAS_ENST00000549983.1_Intron	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	37					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CCCCGGAAGTCGGGGGGCGGGC	0.653																																						ENST00000209873.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(106-111)ccacttfs		achalasia, adrenocortical insufficiency, alacrimia																																				SO:0001589	frameshift_variant	8086				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore		g.chr12:53715141_53715142insG	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.109dupC	12.37:g.53715147_53715147dupG	ENSP00000209873:p.Asp37fs					AAAS_ENST00000550286.1_Intron|AAAS_ENST00000394384.3_Frame_Shift_Ins_p.L37fs|AAAS_ENST00000549983.1_Intron	p.L37fs	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN			1	273_274	-			37					Q5JB47|Q9NWI6|Q9UG19	Frame_Shift_Ins	INS	ENST00000209873.4	37	c.108_109insC	CCDS8856.1																																																																																				0.653	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			8	234						8	234	---	---	---	---
PCBP2	5094	broad.mit.edu	37	12	53856277	53856278	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:53856277_53856278insC	ENST00000439930.3	+	7	539_540	c.517_518insC	c.(517-519)tccfs	p.S173fs	PCBP2_ENST00000541275.1_Splice_Site_p.S169fs|PCBP2_ENST00000359282.5_Splice_Site_p.S169fs|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000437231.1_Splice_Site_p.S169fs|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000552296.2_Splice_Site_p.S169fs|PCBP2_ENST00000603815.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000546463.1_Splice_Site_p.S169fs|PCBP2_ENST00000455667.3_Splice_Site_p.S169fs|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.S173fs			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	173					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TCTCTCCCAGTCCCCCCCGAAG	0.5																																						ENST00000603815.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(517-519)cccfs		poly(rC) binding protein 2																																				SO:0001589	frameshift_variant	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53856277_53856278insC	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.524dupC	12.37:g.53856284_53856284dupC	ENSP00000408949:p.Ser173fs					PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000552296.2_Splice_Site_p.P169_splice|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000455667.3_Splice_Site_p.P169_splice|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000439930.3_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000541275.1_Splice_Site_p.P169_splice|PCBP2_ENST00000359282.5_Splice_Site_p.P169_splice|PCBP2_ENST00000437231.1_Splice_Site_p.P169_splice|PCBP2_ENST00000546463.1_Splice_Site_p.P169_splice	p.P173fs	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN			8	867_868	+			173					A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Frame_Shift_Ins	INS	ENST00000439930.3	37	c.517_518insC	CCDS44901.1																																																																																				0.500	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		11	198						11	198	---	---	---	---
TESPA1	9840	broad.mit.edu	37	12	55354984	55354985	+	Frame_Shift_Ins	INS	-	-	G	rs374408280		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:55354984_55354985insG	ENST00000449076.1	-	10	1666_1667	c.1534_1535insC	c.(1534-1536)cacfs	p.H512fs	TESPA1_ENST00000531122.1_Frame_Shift_Ins_p.H374fs|TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000532804.1_Frame_Shift_Ins_p.H374fs|TESPA1_ENST00000524622.1_Frame_Shift_Ins_p.H374fs|TESPA1_ENST00000316577.8_Frame_Shift_Ins_p.H512fs	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	512					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											AGTCTGGTGGTGGTGGGGGTGC	0.535																																						ENST00000524622.1																			0											c.(1120-1122)ccafs		thymocyte expressed, positive selection associated 1																																				SO:0001589	frameshift_variant	9840							g.chr12:55354984_55354985insG	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.1535dupC	12.37:g.55354986_55354986dupG	ENSP00000400892:p.His512fs					TESPA1_ENST00000316577.8_Frame_Shift_Ins_p.P512fs|TESPA1_ENST00000449076.1_Frame_Shift_Ins_p.P512fs|TESPA1_ENST00000532804.1_Frame_Shift_Ins_p.P374fs|TESPA1_ENST00000531122.1_Frame_Shift_Ins_p.P374fs	p.P374fs	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN			8	1781_1782	-			512					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Frame_Shift_Ins	INS	ENST00000449076.1	37	c.1120_1121insC	CCDS44913.1																																																																																				0.535	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		9	506						9	506	---	---	---	---
IKZF4	64375	broad.mit.edu	37	12	56429092	56429093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:56429092_56429093insG	ENST00000262032.5	+	12	2102_2103	c.1735_1736insG	c.(1735-1737)cggfs	p.R579fs	RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.R477fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.R579fs|IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.R534fs			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	579					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCACATTGTCCGGGGGGAGCAT	0.554																																						ENST00000262032.5																			0				NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8						c.(1735-1737)gggfs		IKAROS family zinc finger 4 (Eos)																																				SO:0001589	frameshift_variant	64375				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:56429092_56429093insG	AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13179	protein-coding gene	gene with protein product		606239	"""zinc finger protein, subfamily 1A, 4 (Eos)"""	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.1741dupG	12.37:g.56429098_56429098dupG	ENSP00000262032:p.Arg579fs					IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.G477fs|IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.G534fs|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs	p.G579fs			Q9H2S9	IKZF4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)		12	2102_2103	+			579					Q96JP3	Frame_Shift_Ins	INS	ENST00000262032.5	37	c.1735_1736insG	CCDS44917.1																																																																																				0.554	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	NM_022465		17	1293						17	1293	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56558259	56558260	+	Frame_Shift_Ins	INS	-	-	G	rs528782426		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:56558259_56558260insG	ENST00000267064.4	-	27	3481_3482	c.3395_3396insC	c.(3394-3396)ccafs	p.P1132fs	SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000347471.4_Intron|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.P1163fs	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1132	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GCAGGTTAGGTGGGGGGAGAGT	0.614																																						ENST00000550164.1																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3487-3489)cccfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2																																				SO:0001589	frameshift_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56558259_56558260insG	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3396dupC	12.37:g.56558265_56558265dupG	ENSP00000267064:p.Pro1132fs					SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.P1132fs|SMARCC2_ENST00000394023.3_Intron|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron	p.P1163fs			Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		28	3502_3503	-			1132			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Ins	INS	ENST00000267064.4	37	c.3488_3489insC	CCDS8907.1																																																																																				0.614	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			8	494						8	494	---	---	---	---
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)cccaagfs	p.K490fs	STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000557235.1_Frame_Shift_Ins_p.K486fs			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	490					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(1465-1470)ccaggcfs		signal transducer and activator of transcription 2, 113kDa																																				SO:0001589	frameshift_variant	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56742816_56742817insG	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1468dupC	12.37:g.56742823_56742823dupG	ENSP00000315768:p.Lys490fs					STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000418572.2_3'UTR	p.G490fs			P52630	STAT2_HUMAN			17	1490_1491	-			490					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Frame_Shift_Ins	INS	ENST00000314128.4	37	c.1467_1468insC	CCDS8917.1																																																																																				0.594	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		8	324						8	324	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57572241	57572242	+	Frame_Shift_Ins	INS	-	-	G	rs139915490		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:57572241_57572242insG	ENST00000243077.3	+	27	4927_4928	c.4461_4462insG	c.(4462-4464)gggfs	p.G1488fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1488					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACGCTGTACGGGGGGGAGGT	0.589																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(4459-4464)taggggfs		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57572241_57572242insG	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4468dupG	12.37:g.57572248_57572248dupG	ENSP00000243077:p.Gly1488fs						p.*G1487fs	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	27	4927_4928	+			1487					Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Ins	INS	ENST00000243077.3	37	c.4461_4462insG	CCDS8932.1																																																																																				0.589	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		19	322						19	322	---	---	---	---
R3HDM2	22864	broad.mit.edu	37	12	57662753	57662754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:57662753_57662754insC	ENST00000347140.3	-	17	2174_2175	c.1784_1785insG	c.(1783-1785)ggcfs	p.G595fs	R3HDM2_ENST00000403821.2_Frame_Shift_Ins_p.G629fs|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000402412.1_Frame_Shift_Ins_p.G609fs|R3HDM2_ENST00000441731.2_Frame_Shift_Ins_p.G290fs|R3HDM2_ENST00000358907.2_Frame_Shift_Ins_p.G595fs|R3HDM2_ENST00000413953.2_Frame_Shift_Ins_p.G322fs|R3HDM2_ENST00000546843.1_5'Flank			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	595	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CTTGCATCTGGCCCCCCATGCT	0.579																																						ENST00000402412.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1825-1827)gcafs		R3H domain containing 2																																				SO:0001589	frameshift_variant	22864					nucleus	nucleic acid binding	g.chr12:57662753_57662754insC	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1785dupG	12.37:g.57662759_57662759dupC	ENSP00000317903:p.Gly595fs					R3HDM2_ENST00000393811.2_Frame_Shift_Ins_p.A322fs|R3HDM2_ENST00000347140.3_Frame_Shift_Ins_p.A595fs|R3HDM2_ENST00000441731.2_Frame_Shift_Ins_p.A290fs|R3HDM2_ENST00000413953.2_Frame_Shift_Ins_p.A322fs|R3HDM2_ENST00000403821.2_Frame_Shift_Ins_p.A629fs|R3HDM2_ENST00000358907.2_Frame_Shift_Ins_p.A595fs|RP11-123K3.4_ENST00000548184.1_RNA	p.A609fs			Q9Y2K5	R3HD2_HUMAN			17	2216_2217	-			595			Gln-rich.		Q2M1T9|Q3ZCT5	Frame_Shift_Ins	INS	ENST00000347140.3	37	c.1826_1827insG	CCDS8937.2																																																																																				0.579	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		8	750						8	750	---	---	---	---
METTL21B	25895	broad.mit.edu	37	12	58174036	58174037	+	Splice_Site	INS	-	-	G	rs143311691|rs374056986	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:58174036_58174037insG	ENST00000300209.8	+	3	414		c.e3-1		TSFM_ENST00000543727.1_5'Flank|METTL21B_ENST00000333012.5_Splice_Site|METTL21B_ENST00000548256.1_Splice_Site|TSFM_ENST00000454289.3_5'Flank|TSFM_ENST00000323833.8_5'Flank|TSFM_ENST00000550559.1_5'Flank|TSFM_ENST00000350762.5_5'Flank|RP11-571M6.15_ENST00000471530.1_Intron|METTL21B_ENST00000551420.1_Splice_Site|TSFM_ENST00000548851.1_5'Flank|RP11-571M6.15_ENST00000553083.1_Intron|TSFM_ENST00000540550.1_5'Flank	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						CCTCTCTCTCAGGGGGGGATGT	0.584																																						ENST00000333012.5																			0				endometrium(1)|lung(1)	2						c.e4-1		methyltransferase like 21B																																				SO:0001630	splice_region_variant	25895					integral to membrane|intracellular	methyltransferase activity	g.chr12:58174036_58174037insG	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"""family with sequence similarity 119, member B"""	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459	ENST00000300209.8:c.290-1->G	12.37:g.58174043_58174043dupG						RP11-571M6.15_ENST00000553083.1_Intron|METTL21B_ENST00000551420.1_Splice_Site|METTL21B_ENST00000300209.8_Splice_Site|METTL21B_ENST00000548256.1_Splice_Site|RP11-571M6.15_ENST00000471530.1_Intron		NM_206914.1	NP_996797.1	Q96AZ1	MT21B_HUMAN			4	475	+								Q9H749|Q9Y3W2	Splice_Site	INS	ENST00000300209.8	37		CCDS8957.1																																																																																				0.584	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409268.1	NM_015433	Intron	15	443						15	443	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1197)cgccccfs	p.RP398fs	NAV3_ENST00000266692.7_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.RP398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAGC	0.495										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1192-1194)cccfs		neuron navigator 3				2,3746		0,2,1872						4.8	1.0			90	1,7917		0,1,3958	no	frameshift	NAV3	NM_014903.4		0,3,5830	A1A1,A1R,RR		0.0126,0.0534,0.0257				3,11663				SO:0001589	frameshift_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400511_78400512insC	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1199dupC	12.37:g.78400517_78400517dupC	ENSP00000381007:p.Arg398fs	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs	p.P398fs			Q8IVL0	NAV3_HUMAN			8	1366_1367	+			398					Q8NFW7|Q9Y2E7	Frame_Shift_Ins	INS	ENST00000397909.2	37	c.1193_1194insC																																																																																					0.495	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		10	295						10	295	---	---	---	---
TMCC3	57458	broad.mit.edu	37	12	94975857	94975858	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:94975857_94975858insG	ENST00000261226.4	-	2	666_667	c.535_536insC	c.(535-537)catfs	p.H179fs	TMCC3_ENST00000551457.1_Frame_Shift_Ins_p.H148fs	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	179						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CTCCATGCAATGGGGGGCAGTT	0.495																																						ENST00000261226.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						c.(535-537)ttgfs		transmembrane and coiled-coil domain family 3																																				SO:0001589	frameshift_variant	57458					integral to membrane		g.chr12:94975857_94975858insG	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.536dupC	12.37:g.94975863_94975863dupG	ENSP00000261226:p.His179fs					TMCC3_ENST00000551457.1_Frame_Shift_Ins_p.L148fs	p.L179fs	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN			2	666_667	-			179					Q8IWB2	Frame_Shift_Ins	INS	ENST00000261226.4	37	c.535_536insC	CCDS31877.1																																																																																				0.495	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		8	738						8	738	---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G	rs550401137		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)ccafs	p.P1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.P722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(3214-3216)cgtfs		UHRF1 binding protein 1-like																																				SO:0001589	frameshift_variant	23074							g.chr12:100451839_100451840insG		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3216dupC	12.37:g.100451846_100451846dupG	ENSP00000279907:p.Pro1072fs					UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	p.R1072fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			14	3427_3428	-			1072					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Frame_Shift_Ins	INS	ENST00000279907.7	37	c.3215_3216insC	CCDS31882.1																																																																																				0.371	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		13	194						13	194	---	---	---	---
SLC8B1	80024	broad.mit.edu	37	12	113759072	113759073	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:113759072_113759073insC	ENST00000552014.1	-	4	752_753	c.237_238insG	c.(235-240)gggtacfs	p.Y80fs	SLC8B1_ENST00000553238.1_5'UTR|SLC8B1_ENST00000546737.1_Frame_Shift_Ins_p.Y80fs|SLC8B1_ENST00000202831.3_Frame_Shift_Ins_p.Y80fs			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	80					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										TAGTCCAGGTACCCCCCATCAC	0.624																																						ENST00000552014.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						c.(235-240)ggacctfs																																						SO:0001589	frameshift_variant	80024				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113759072_113759073insC	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.238dupG	12.37:g.113759078_113759078dupC	ENSP00000447091:p.Tyr80fs					SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000202831.3_Frame_Shift_Ins_p.P80fs|SLC24A6_ENST00000546737.1_Frame_Shift_Ins_p.P80fs	p.P80fs			Q6J4K2	NCKX6_HUMAN			4	752_753	-			80					A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Frame_Shift_Ins	INS	ENST00000552014.1	37	c.237_238insG	CCDS31909.1																																																																																				0.624	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959		8	1188						8	1188	---	---	---	---
SIRT4	23409	broad.mit.edu	37	12	120750293	120750294	+	Frame_Shift_Ins	INS	-	-	G	rs546233791	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:120750293_120750294insG	ENST00000202967.4	+	3	591_592	c.532_533insG	c.(532-534)cggfs	p.R178fs	SIRT4_ENST00000537892.1_Intron|RNU6-1088P_ENST00000516850.1_RNA	NM_012240.2	NP_036372.1			sirtuin 4											haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACAGACTCCCCGGGGGGTGCTG	0.579																																						ENST00000202967.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9						c.(532-534)gggfs		sirtuin 4																																				SO:0001589	frameshift_variant	23409				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	g.chr12:120750293_120750294insG	AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4"", ""sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"""			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.538dupG	12.37:g.120750299_120750299dupG	ENSP00000202967:p.Arg178fs					SIRT4_ENST00000537892.1_Intron	p.G178fs	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN			3	591_592	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		178			Deacetylase sirtuin-type.			Frame_Shift_Ins	INS	ENST00000202967.4	37	c.532_533insG	CCDS9194.1																																																																																				0.579	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402003.1	NM_012240		11	388						11	388	---	---	---	---
FAM101A	144347	broad.mit.edu	37	12	124719609	124719610	+	Intron	INS	-	-	CATTAA	rs377203869		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:124719609_124719610insCATTAA	ENST00000545615.1	+	4	391							Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A											endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		accatcaccatcaccatcacca	0.485																																						ENST00000540762.1																			0																																																	SO:0001627	intron_variant	144347							g.chr12:124719609_124719610insCATTAA		CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000545615.1:c.392-481->CATTAA	12.37:g.124719609_124719610insCATTAA														0	444	+								A5D8T5	RNA	INS	ENST00000545615.1	37																																																																																						0.485	FAM101A-006	KNOWN	mRNA_end_NF|basic	processed_transcript	protein_coding	OTTHUMT00000471484.1	NM_181709		2	4						2	4	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132466645	132466646	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:132466645_132466646insC	ENST00000333577.4	+	6	1768_1769	c.1659_1660insC	c.(1660-1662)cccfs	p.P554fs	EP400_ENST00000330386.6_Frame_Shift_Ins_p.P518fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.P518fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.P481fs|EP400_ENST00000389562.2_Frame_Shift_Ins_p.P517fs			Q96L91	EP400_HUMAN	E1A binding protein p400	554					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGGAGGAATGCCCCCCACGCC	0.589																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(1657-1662)atccccfs		E1A binding protein p400																																				SO:0001589	frameshift_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132466645_132466646insC	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1665dupC	12.37:g.132466651_132466651dupC	ENSP00000333602:p.Pro554fs					EP400_ENST00000389562.2_Frame_Shift_Ins_p.IP516fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.IP517fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.IP517fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.IP480fs	p.IP553fs			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	6	1768_1769	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	553					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Frame_Shift_Ins	INS	ENST00000333577.4	37	c.1659_1660insC																																																																																					0.589	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		13	811						13	811	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133245023	133245024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:133245023_133245024insG	ENST00000320574.5	-	19	2134_2135	c.2091_2092insC	c.(2089-2094)cccttgfs	p.PL697fs	POLE_ENST00000535270.1_Frame_Shift_Ins_p.PL670fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	697					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TCTGGGAACAAGGGGGGGAACT	0.599								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(2089-2094)cctgttfs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit																																				SO:0001589	frameshift_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133245023_133245024insG		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.2092dupC	12.37:g.133245030_133245030dupG	ENSP00000322570:p.Pro697fs					POLE_ENST00000535270.1_Frame_Shift_Ins_p.V671fs	p.V698fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	19	2134_2135	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	698					Q13533|Q86VH9	Frame_Shift_Ins	INS	ENST00000320574.5	37	c.2091_2092insC	CCDS9278.1																																																																																				0.599	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		13	198						13	198	---	---	---	---
FLT3	2322	broad.mit.edu	37	13	28608096	28608097	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:28608096_28608097insT	ENST00000241453.7	-	15	1950_1951	c.1869_1870insA	c.(1867-1872)aaagtgfs	p.V624fs	FLT3_ENST00000537084.1_Frame_Shift_Ins_p.V624fs|FLT3_ENST00000380982.4_Frame_Shift_Ins_p.V624fs	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	624	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCGTTCATCACTTTTCCAAAAG	0.411			"""Mis, O"""		"""AML, ALL"""																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"""Mis, O"""	fms-related tyrosine kinase 3			L			"""AML, ALL"""		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(1867-1872)aatgatfs		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)																																			SO:0001589	frameshift_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28608096_28608097insT	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1870dupA	13.37:g.28608100_28608100dupT	ENSP00000241453:p.Val624fs					FLT3_ENST00000537084.1_Frame_Shift_Ins_p.ND623fs|FLT3_ENST00000241453.7_Frame_Shift_Ins_p.ND623fs	p.ND623fs			P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	15	1950_1951	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	623			Protein kinase.		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Frame_Shift_Ins	INS	ENST00000241453.7	37	c.1869_1870insA	CCDS31953.1																																																																																				0.411	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			10	1767						10	1767	---	---	---	---
MRPS31	10240	broad.mit.edu	37	13	41340958	41340959	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:41340958_41340959insG	ENST00000323563.6	-	2	399_400	c.363_364insC	c.(361-366)cccaaafs	p.K122fs		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	122						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GGTCTTCTTTTGGGGGGCTTTG	0.366																																						ENST00000323563.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13						c.(361-366)ccaaagfs		mitochondrial ribosomal protein S31																																				SO:0001589	frameshift_variant	10240					mitochondrion|ribosome	protein domain specific binding	g.chr13:41340958_41340959insG	Z68747	CCDS9372.1	13q14.11	2012-09-13			ENSG00000102738	ENSG00000102738		"""Mitochondrial ribosomal proteins / small subunits"""	16632	protein-coding gene	gene with protein product		611992				11279123, 8567980	Standard	NM_005830		Approved	IMOGN38	uc001uxm.4	Q92665	OTTHUMG00000016777	ENST00000323563.6:c.364dupC	13.37:g.41340964_41340964dupG	ENSP00000315397:p.Lys122fs						p.PK121fs	NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)	2	399_400	-		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	121					B2RCS3|Q5VYC8|Q8WTV8	Frame_Shift_Ins	INS	ENST00000323563.6	37	c.363_364insC	CCDS9372.1																																																																																				0.366	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044640.2			7	163						7	163	---	---	---	---
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080|rs370605552	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggcgafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.47																																						ENST00000379485.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1324-1329)gggagafs		kelch repeat and BTB (POZ) domain containing 6																																				SO:0001589	frameshift_variant	89890						protein binding	g.chr13:41705321_41705322insC	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1327dupG	13.37:g.41705328_41705328dupC	ENSP00000368799:p.Arg443fs					KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	p.R443fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1560_1561	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	443					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Frame_Shift_Ins	INS	ENST00000379485.1	37	c.1326_1327insG	CCDS9376.1																																																																																				0.470	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		21	308						21	308	---	---	---	---
ATP7B	540	broad.mit.edu	37	13	52532497	52532498	+	Frame_Shift_Ins	INS	-	-	G	rs193922103|rs137853287|rs587779354		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:52532497_52532498insG	ENST00000242839.4	-	8	2460_2461	c.2304_2305insC	c.(2302-2307)cccatgfs	p.M769fs	ATP7B_ENST00000448424.2_Intron|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000418097.2_Frame_Shift_Ins_p.M769fs|ATP7B_ENST00000400366.3_Frame_Shift_Ins_p.M658fs|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000417240.2_Frame_Shift_Ins_p.M41fs	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	769			M -> I (in WD). {ECO:0000269|PubMed:10790207}.|M -> R (in WD).|M -> V (in WD). {ECO:0000269|PubMed:11690702}.		cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ACAAAGAGCATGGGGGGCGTGT	0.52									Wilson disease																													ENST00000242839.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55	GRCh37	CD982475|CI951903|CM992596	ATP7B	D|I|M		c.(2302-2307)cctgctfs		ATPase, Cu++ transporting, beta polypeptide																																				SO:0001589	frameshift_variant	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52532497_52532498insG	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.2305dupC	13.37:g.52532503_52532503dupG	ENSP00000242839:p.Met769fs					ATP7B_ENST00000448424.2_Intron|ATP7B_ENST00000418097.2_Frame_Shift_Ins_p.A769fs|ATP7B_ENST00000417240.2_Frame_Shift_Ins_p.A41fs|ATP7B_ENST00000400366.3_Frame_Shift_Ins_p.A658fs|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000344297.5_Intron	p.A769fs	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	8	2460_2461	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	769		M -> I (in WD).|M -> R (in WD).|M -> V (in WD).			Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Frame_Shift_Ins	INS	ENST00000242839.4	37	c.2304_2305insC	CCDS41892.1																																																																																				0.520	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		11	718						11	718	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77641916	77641917	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:77641916_77641917insG	ENST00000544440.2	-	71	12157_12158	c.12140_12141insC	c.(12139-12141)ccafs	p.P4047fs	MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.P4047fs|MYCBP2_ENST00000407578.2_Frame_Shift_Ins_p.P4085fs					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGATATCTGCTGGGGGGAGGGA	0.436																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(12253-12255)cgcfs		MYC binding protein 2, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77641916_77641917insG	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.12141dupC	13.37:g.77641922_77641922dupG	ENSP00000444596:p.Pro4047fs					MYCBP2_ENST00000544440.2_Frame_Shift_Ins_p.R4047fs|MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.R4047fs	p.R4085fs	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	71	12520_12521	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	4047						Frame_Shift_Ins	INS	ENST00000544440.2	37	c.12254_12255insC																																																																																					0.436	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		7	344						7	344	---	---	---	---
OR4M1	441670	broad.mit.edu	37	14	20248930	20248931	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:20248930_20248931insG	ENST00000315957.4	+	1	530_531	c.449_450insG	c.(448-453)atggggfs	p.MG150fs		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTCTCCTGGATGGGGGGCTTCA	0.505																																						ENST00000315957.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(448-450)aggfs		olfactory receptor, family 4, subfamily M, member 1																																				SO:0001589	frameshift_variant	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248930_20248931insG		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.455dupG	14.37:g.20248936_20248936dupG	ENSP00000319654:p.Met150fs						p.R150fs	NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	530_531	+	all_cancers(95;0.00108)		150					B9EH18|Q6IFA3	Frame_Shift_Ins	INS	ENST00000315957.4	37	c.449_450insG	CCDS32021.1																																																																																				0.505	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			7	1197						7	1197	---	---	---	---
OR4N5	390437	broad.mit.edu	37	14	20612063	20612064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:20612063_20612064insC	ENST00000333629.1	+	1	169_170	c.169_170insC	c.(169-171)gccfs	p.A57fs	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGGCTCACAGCCCCCCTCTAT	0.46																																						ENST00000333629.1																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(169-171)cccfs		olfactory receptor, family 4, subfamily N, member 5																																				SO:0001589	frameshift_variant	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612063_20612064insC		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.175dupC	14.37:g.20612069_20612069dupC	ENSP00000332110:p.Ala57fs						p.P57fs	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	169_170	+	all_cancers(95;0.00108)		57					Q6IF11	Frame_Shift_Ins	INS	ENST00000333629.1	37	c.169_170insC	CCDS32031.1																																																																																				0.460	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			8	1113						8	1113	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20846337	20846338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:20846337_20846338insC	ENST00000262715.5	-	39	5606_5607	c.5566_5567insG	c.(5566-5568)gttfs	p.V1856fs	TEP1_ENST00000545983.1_Frame_Shift_Ins_p.V194fs|TEP1_ENST00000556935.1_Frame_Shift_Ins_p.V1748fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1856					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CACAGCCACAACCCCCCCAGGC	0.624																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(5566-5568)tgtfs		telomerase-associated protein 1																																				SO:0001589	frameshift_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20846337_20846338insC		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5567dupG	14.37:g.20846344_20846344dupC	ENSP00000262715:p.Val1856fs					TEP1_ENST00000545983.1_Frame_Shift_Ins_p.C194fs|TEP1_ENST00000556935.1_Frame_Shift_Ins_p.C1748fs	p.C1856fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	39	5606_5607	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1856					A0AUV9	Frame_Shift_Ins	INS	ENST00000262715.5	37	c.5566_5567insG	CCDS9548.1																																																																																				0.624	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		7	150						7	150	---	---	---	---
TRAV3	28690	broad.mit.edu	37	14	22192097	22192098	+	RNA	INS	-	-	C	rs570668890	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:22192097_22192098insC	ENST00000390425.2	+	0	138_139									T cell receptor alpha variable 3 (gene/pseudogene)																		GCTGGAAAGGACCCCCCCAATC	0.574																																						ENST00000390425.2																			0																																																			28690							g.chr14:22192097_22192098insC	AE000658		14q11.2	2012-02-07	2008-09-12		ENSG00000211777	ENSG00000211777		"""T cell receptors / TRA locus"""	12128	other	T cell receptor gene			"""T cell receptor alpha variable 3"""			8188290	Standard	NG_001332		Approved				OTTHUMG00000168981		14.37:g.22192104_22192104dupC														0	138_139	+									RNA	INS	ENST00000390425.2	37																																																																																						0.574	TRAV3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401876.1	NG_001332		11	374						11	374	---	---	---	---
TRAV19	28664	broad.mit.edu	37	14	22476138	22476141	+	RNA	DEL	AGGT	AGGT	-	rs71918459|rs34929909|rs377381134	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:22476138_22476141delAGGT	ENST00000390447.3	+	0	185_188									T cell receptor alpha variable 19																		ATGGCTCAGAAGGTAACTCAAGCG	0.412																																						ENST00000390447.3																			0																	233,3367		15,203,1582						1.5	1.0		dbSNP_130	58	722,7136		65,592,3272	no	intergenic				80,795,4854	A1A1,A1R,RR		9.1881,6.4722,8.3348				955,10503						28664							g.chr14:22476138_22476141delAGGT	AE000660		14q11.2	2012-02-07			ENSG00000211799	ENSG00000211799		"""T cell receptors / TRA locus"""	12115	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TCRAV12S1, TCRAV19S1			OTTHUMG00000170645		14.37:g.22476138_22476141delAGGT														0	185_188	+									RNA	DEL	ENST00000390447.3	37																																																																																						0.412	TRAV19-001	KNOWN	upstream_ATG|mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409893.1	NG_001332		7	28						7	28	---	---	---	---
CDH24	64403	broad.mit.edu	37	14	23523784	23523785	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:23523784_23523785insC	ENST00000267383.5	-	4	806_807	c.714_715insG	c.(712-717)gggctgfs	p.L239fs	CDH24_ENST00000487137.2_Frame_Shift_Ins_p.L239fs|CDH24_ENST00000554034.1_Frame_Shift_Ins_p.L239fs|CDH24_ENST00000397359.3_Frame_Shift_Ins_p.L239fs			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	239	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CTGCCTGACAGCCCCCCCATGT	0.609											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000397359.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(712-717)ggtgtcfs		cadherin 24, type 2																																				SO:0001589	frameshift_variant	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23523784_23523785insC	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.715dupG	14.37:g.23523791_23523791dupC	ENSP00000267383:p.Leu239fs		OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	764	CDH24_ENST00000487137.2_Frame_Shift_Ins_p.V239fs|CDH24_ENST00000267383.5_Frame_Shift_Ins_p.V239fs|CDH24_ENST00000554034.1_Frame_Shift_Ins_p.V239fs	p.V239fs	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	5	973_974	-	all_cancers(95;3.3e-05)		239			Cadherin 2.		D3DS44|Q86UP1|Q9NT84	Frame_Shift_Ins	INS	ENST00000267383.5	37	c.714_715insG	CCDS9585.1																																																																																				0.609	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		9	87						9	87	---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	32902724	32902725	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:32902724_32902725insC	ENST00000280979.4	+	2	195_196	c.25_26insC	c.(25-27)tccfs	p.S9fs	AKAP6_ENST00000557354.1_Frame_Shift_Ins_p.S9fs|AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557272.1_Frame_Shift_Ins_p.S9fs	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	9					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CGTGACACTTTCCCCCCTGAGG	0.505																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(25-27)cccfs		A kinase (PRKA) anchor protein 6																																				SO:0001589	frameshift_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:32902724_32902725insC	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.31dupC	14.37:g.32902730_32902730dupC	ENSP00000280979:p.Ser9fs					AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557354.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000557272.1_Frame_Shift_Ins_p.P9fs	p.P9fs	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	2	195_196	+	Breast(36;0.0388)|Prostate(35;0.15)		9					A7E242|A7E2D4|O15028	Frame_Shift_Ins	INS	ENST00000280979.4	37	c.25_26insC	CCDS9644.1																																																																																				0.505	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		8	421						8	421	---	---	---	---
C14orf28	122525	broad.mit.edu	37	14	45369723	45369724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:45369723_45369724insG	ENST00000325192.3	+	2	360_361	c.85_86insG	c.(85-87)tggfs	p.W29fs	RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Frame_Shift_Ins_p.W29fs	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	29										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						TGTTCTTCCTTGGGGGGGTGTT	0.376																																						ENST00000325192.3																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						c.(85-87)gggfs		chromosome 14 open reading frame 28				14,4250		0,14,2118						5.6	1.0			77	13,8241		0,13,4114	no	frameshift	C14orf28	NM_001017923.1		0,27,6232	A1A1,A1R,RR		0.1575,0.3283,0.2157				27,12491				SO:0001589	frameshift_variant	122525							g.chr14:45369723_45369724insG	AA496212	CCDS32069.1	14q21.2	2012-08-16			ENSG00000179476	ENSG00000179476			19834	protein-coding gene	gene with protein product	"""dopamine receptor interacting protein 1"""						Standard	XM_005267316		Approved	DRIP-1	uc001wvo.3	Q4W4Y0	OTTHUMG00000170722	ENST00000325192.3:c.92dupG	14.37:g.45369730_45369730dupG	ENSP00000326846:p.Trp29fs					RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Frame_Shift_Ins_p.G29fs	p.G29fs	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN			2	360_361	+			29						Frame_Shift_Ins	INS	ENST00000325192.3	37	c.85_86insG	CCDS32069.1																																																																																				0.376	C14orf28-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410086.1	NM_001017923		7	64						7	64	---	---	---	---
ABHD12B	145447	broad.mit.edu	37	14	51347189	51347190	+	Frame_Shift_Ins	INS	-	-	G	rs141865189|rs200952659		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:51347189_51347190insG	ENST00000337334.2	+	4	370_371	c.355_356insG	c.(355-357)cggfs	p.R119fs	ABHD12B_ENST00000554241.1_3'UTR|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000395752.1_Frame_Shift_Ins_p.R12fs|ABHD12B_ENST00000353130.1_Frame_Shift_Ins_p.R42fs	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	119							hydrolase activity (GO:0016787)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					CCCCAGCTGCCGGGGGGAAGAT	0.49																																						ENST00000337334.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10						c.(355-357)gggfs		abhydrolase domain containing 12B																																				SO:0001589	frameshift_variant	145447						hydrolase activity	g.chr14:51347189_51347190insG	BG698443	CCDS9702.1, CCDS55916.1	14q21.3	2009-10-09	2007-04-03	2007-04-03	ENSG00000131969	ENSG00000131969		"""Abhydrolase domain containing"""	19837	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 29"""	C14orf29			Standard	NM_181814		Approved	BEM46L3	uc001wys.3	Q7Z5M8	OTTHUMG00000140286	ENST00000337334.2:c.361dupG	14.37:g.51347195_51347195dupG	ENSP00000336693:p.Arg119fs					PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000554241.1_3'UTR|ABHD12B_ENST00000353130.1_Frame_Shift_Ins_p.G42fs|ABHD12B_ENST00000395752.1_Frame_Shift_Ins_p.G12fs	p.G119fs	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN			4	370_371	+	all_epithelial(31;0.00481)|Breast(41;0.148)		119					Q3KNR9|Q3KNS0|Q7Z5M6|Q7Z5M7|Q8N4D2	Frame_Shift_Ins	INS	ENST00000337334.2	37	c.355_356insG	CCDS55916.1																																																																																				0.490	ABHD12B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411030.1			9	518						9	518	---	---	---	---
MED6	10001	broad.mit.edu	37	14	71051554	71051555	+	Frame_Shift_Ins	INS	-	-	G	rs145634622	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:71051554_71051555insG	ENST00000256379.5	-	8	745_746	c.716_717insC	c.(715-717)cctfs	p.P239fs	MED6_ENST00000430055.2_Frame_Shift_Ins_p.P246fs|MED6_ENST00000554963.1_Frame_Shift_Ins_p.P239fs|MED6_ENST00000440435.2_3'UTR	NM_001284209.1|NM_005466.2	NP_001271138.1|NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	239					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.E240fs*1(1)		large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		TCCGTTTTTCAGGGGGGCCTTT	0.45																																						ENST00000256379.5																			1	Insertion - Frameshift(1)	p.E240fs*1(1)	skin(1)	large_intestine(2)|lung(2)|skin(1)	5						c.(715-717)cgafs		mediator complex subunit 6																																				SO:0001589	frameshift_variant	10001				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity	g.chr14:71051554_71051555insG	BC004106	CCDS9805.1, CCDS61483.1, CCDS61484.1, CCDS73649.1	14q24.1	2013-02-28	2007-07-30		ENSG00000133997	ENSG00000133997			19970	protein-coding gene	gene with protein product		602984	"""mediator of RNA polymerase II transcription, subunit 6 homolog (S. cerevisiae)"""			9234719, 9671713	Standard	NM_001284209		Approved	NY-REN-28	uc001xmf.3	O75586	OTTHUMG00000171252	ENST00000256379.5:c.717dupC	14.37:g.71051560_71051560dupG	ENSP00000256379:p.Pro239fs					MED6_ENST00000430055.2_Frame_Shift_Ins_p.R246fs|MED6_ENST00000440435.2_3'UTR|MED6_ENST00000554963.1_Frame_Shift_Ins_p.R239fs	p.R239fs	NM_005466.2	NP_005457.2	O75586	MED6_HUMAN		all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)	8	745_746	-			239					B4DU17|B4E2P0|O15401|Q53FE3|Q53HJ3|Q6FHQ4|Q9BTH1|Q9UHL1	Frame_Shift_Ins	INS	ENST00000256379.5	37	c.716_717insC	CCDS9805.1																																																																																				0.450	MED6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412560.2	NM_005466		8	997						8	997	---	---	---	---
ELMSAN1	91748	broad.mit.edu	37	14	74206605	74206606	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:74206605_74206606insG	ENST00000286523.5	-	2	888_889	c.106_107insC	c.(106-108)cagfs	p.Q36fs	ELMSAN1_ENST00000486739.1_5'Flank|ELMSAN1_ENST00000394071.2_Frame_Shift_Ins_p.Q36fs	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	36					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GATGGACTGCTGGGGGGGCTGC	0.668																																						ENST00000286523.5																			0											c.(106-108)gcafs		ELM2 and Myb/SANT-like domain containing 1																																				SO:0001589	frameshift_variant	91748							g.chr14:74206605_74206606insG	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.107dupC	14.37:g.74206612_74206612dupG	ENSP00000286523:p.Gln36fs					ELMSAN1_ENST00000394071.2_Frame_Shift_Ins_p.A36fs	p.A36fs	NM_194278.3	NP_919254.2					2	888_889	-								Q6PK13|Q6PK59|Q6ZS23	Frame_Shift_Ins	INS	ENST00000286523.5	37	c.106_107insC	CCDS9819.1																																																																																				0.668	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		7	137						7	137	---	---	---	---
LTBP2	4053	broad.mit.edu	37	14	74972756	74972757	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:74972756_74972757insC	ENST00000261978.4	-	28	4557_4558	c.4171_4172insG	c.(4171-4173)gctfs	p.A1391fs	LTBP2_ENST00000556690.1_Frame_Shift_Ins_p.A1347fs	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1391					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTCACCTCCAGCCCCCCGTGGG	0.634																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(4171-4173)tggfs		latent transforming growth factor beta binding protein 2																																				SO:0001589	frameshift_variant	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74972756_74972757insC		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.4172dupG	14.37:g.74972762_74972762dupC	ENSP00000261978:p.Ala1391fs					LTBP2_ENST00000556690.1_Frame_Shift_Ins_p.W1347fs	p.W1391fs	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	28	4557_4558	-			1391					Q99907|Q9NS51	Frame_Shift_Ins	INS	ENST00000261978.4	37	c.4171_4172insG	CCDS9831.1																																																																																				0.634	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		7	251						7	251	---	---	---	---
EIF3LP1	319117	broad.mit.edu	37	14	82383671	82383671	+	lincRNA	DEL	C	C	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:82383671delC	ENST00000554814.1	+	0	315																											TCATGATGTACCCCATGCATA	0.488																																						ENST00000554814.1																			0																																																			319117							g.chr14:82383671delC																													14.37:g.82383671delC														0	315	+									RNA	DEL	ENST00000554814.1	37																																																																																						0.488	RP11-666E17.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000413276.1			35	164						35	164	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G	rs570771230|rs571384652	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)aggfs	p.R150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.5													tgggggg|GGGGGGG|GGGGGGGG|complex_insertion	8	0.00159744	0.0045	0.0	5008	,	,		35803	0.0		0.0	False		,,,				2504	0.002					ENST00000332663.2																			3	Substitution - Missense(3)	p.R150M(2)|p.R150W(1)	lung(3)	NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63						c.(448-450)gggfs		olfactory receptor, family 4, subfamily M, member 2																																				SO:0001589	frameshift_variant	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369023_22369024insG	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.455dupG	15.37:g.22369030_22369030dupG	ENSP00000329467:p.Arg150fs					RP11-69H14.6_ENST00000558896.1_RNA	p.G150fs	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	546_547	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	150					B9EH16|Q6IEY2	Frame_Shift_Ins	INS	ENST00000332663.2	37	c.448_449insG	CCDS32172.1																																																																																				0.500	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			22	807						22	807	---	---	---	---
C15orf52	388115	broad.mit.edu	37	15	40630771	40630772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:40630771_40630772insG	ENST00000559313.1	-	5	624_625	c.609_610insC	c.(607-612)cccacgfs	p.T204fs	C15orf52_ENST00000557973.1_5'Flank|C15orf52_ENST00000397536.2_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	204							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCCACCTGCGTGGGGGGGCTTC	0.584											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000559313.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19						c.(607-612)cccgcafs		chromosome 15 open reading frame 52																																				SO:0001589	frameshift_variant	388115							g.chr15:40630771_40630772insG	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.610dupC	15.37:g.40630778_40630778dupG	ENSP00000453969:p.Thr204fs		OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	894		p.A204fs	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	5	624_625	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	204					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Frame_Shift_Ins	INS	ENST00000559313.1	37	c.609_610insC	CCDS10055.2																																																																																				0.584	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		9	272						9	272	---	---	---	---
RP11-1129I3.1	0	broad.mit.edu	37	15	56852469	56852469	+	RNA	DEL	T	T	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:56852469delT	ENST00000562300.1	-	0	439																											catttctttcttttttttttc	0.448																																						ENST00000562300.1																			0																																																			0							g.chr15:56852469delT																													15.37:g.56852469delT														0	439	-									RNA	DEL	ENST00000562300.1	37																																																																																						0.448	RP11-1129I3.1-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000420511.2			2	4						2	4	---	---	---	---
SLC24A1	9187	broad.mit.edu	37	15	65918177	65918179	+	In_Frame_Del	DEL	CTG	CTG	-	rs370680044		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:65918177_65918179delCTG	ENST00000261892.6	+	2	2046_2048	c.1759_1761delCTG	c.(1759-1761)ctgdel	p.L591del	SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	591					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTGGGAGAGCCTGCTGCTGCTGC	0.547																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1759-1761)del		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1				99,3943		8,83,1930						4.1	1.0			151	234,7914		7,220,3847	no	coding	SLC24A1	NM_004727.2		15,303,5777	A1A1,A1R,RR		2.8719,2.4493,2.7317				333,11857				SO:0001651	inframe_deletion	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65918177_65918179delCTG	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.1759_1761delCTG	15.37:g.65918186_65918188delCTG	ENSP00000261892:p.Leu591del					SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del	p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			2	2046_2048	+			591					O43485|O75184|Q17RM9	In_Frame_Del	DEL	ENST00000261892.6	37	c.1759_1761delCTG	CCDS45284.1																																																																																				0.547	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		7	219						7	219	---	---	---	---
SNX33	257364	broad.mit.edu	37	15	75942735	75942736	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:75942735_75942736insC	ENST00000308527.5	+	1	2489_2490	c.1292_1293insC	c.(1291-1296)gaccccfs	p.DP431fs	IMP3_ENST00000565349.1_5'Flank|IMP3_ENST00000314852.2_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	431	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						TTCCAGATGGACCCCCCCTTTT	0.569																																						ENST00000308527.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						c.(1291-1293)gccfs		sorting nexin 33																																				SO:0001589	frameshift_variant	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75942735_75942736insC	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.1299dupC	15.37:g.75942742_75942742dupC	ENSP00000311427:p.Asp431fs						p.A431fs	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN			1	2489_2490	+			431			BAR.		B1NM17	Frame_Shift_Ins	INS	ENST00000308527.5	37	c.1292_1293insC	CCDS10283.1																																																																																				0.569	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		9	282						9	282	---	---	---	---
SLC28A1	9154	broad.mit.edu	37	15	85488004	85488005	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:85488004_85488005insG	ENST00000286749.3	+	17	1870_1871	c.1780_1781insG	c.(1780-1782)aggfs	p.R594fs	SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000538177.1_Frame_Shift_Ins_p.R428fs|SLC28A1_ENST00000394573.1_Frame_Shift_Ins_p.R594fs|SLC28A1_ENST00000537624.1_Frame_Shift_Ins_p.R594fs			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	594					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	CTACATGCCCAGGGGGGCTGAA	0.604																																						ENST00000394573.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(1780-1782)gggfs		solute carrier family 28 (concentrative nucleoside transporter), member 1																																				SO:0001589	frameshift_variant	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85488004_85488005insG	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1786dupG	15.37:g.85488010_85488010dupG	ENSP00000286749:p.Arg594fs					SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000537624.1_Frame_Shift_Ins_p.G594fs|SLC28A1_ENST00000286749.3_Frame_Shift_Ins_p.G594fs|SLC28A1_ENST00000538177.1_Frame_Shift_Ins_p.G428fs	p.G594fs	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		18	1982_1983	+			594					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Frame_Shift_Ins	INS	ENST00000286749.3	37	c.1780_1781insG	CCDS10334.1																																																																																				0.604	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			7	777						7	777	---	---	---	---
IDH2	3418	broad.mit.edu	37	15	90631917	90631918	+	Frame_Shift_Ins	INS	-	-	C	rs200758694	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:90631917_90631918insC	ENST00000330062.3	-	4	548_549	c.435_436insG	c.(433-438)gggactfs	p.T146fs	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Frame_Shift_Ins_p.T16fs|IDH2_ENST00000540499.2_Frame_Shift_Ins_p.T94fs	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	146					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CGGAAGACAGTCCCCCCCAGGA	0.564			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		0				biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(433-438)ggctgtfs		isocitrate dehydrogenase 2 (NADP+), mitochondrial																																				SO:0001589	frameshift_variant	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631917_90631918insC		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.436dupG	15.37:g.90631924_90631924dupC	ENSP00000331897:p.Thr146fs					IDH2_ENST00000539790.1_Frame_Shift_Ins_p.C16fs|IDH2_ENST00000540499.2_Frame_Shift_Ins_p.C94fs|IDH2_ENST00000559482.1_Intron	p.C146fs	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	548_549	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		146					B2R6L6|B4DFL2|Q96GT3	Frame_Shift_Ins	INS	ENST00000330062.3	37	c.435_436insG	CCDS10359.1																																																																																				0.564	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			7	142						7	142	---	---	---	---
SV2B	9899	broad.mit.edu	37	15	91832791	91832792	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:91832791_91832792insT	ENST00000394232.1	+	12	2219_2220	c.1749_1750insT	c.(1750-1752)tttfs	p.F584fs	SV2B_ENST00000545111.2_Frame_Shift_Ins_p.F433fs|SV2B_ENST00000330276.4_Frame_Shift_Ins_p.F584fs	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	584					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GCTTCTTCCTGTTTTTTGGCAA	0.52																																						ENST00000394232.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1747-1752)ctttttfs		synaptic vesicle glycoprotein 2B																																				SO:0001589	frameshift_variant	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91832791_91832792insT	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1755dupT	15.37:g.91832797_91832797dupT	ENSP00000377779:p.Phe584fs					SV2B_ENST00000545111.2_Frame_Shift_Ins_p.LF432fs|SV2B_ENST00000330276.4_Frame_Shift_Ins_p.LF583fs	p.LF583fs	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		12	2219_2220	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		583					B4DH30|C6G489|O94840|Q6IAR8	Frame_Shift_Ins	INS	ENST00000394232.1	37	c.1749_1750insT	CCDS10370.1																																																																																				0.520	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		7	566						7	566	---	---	---	---
IL9RP3	729486	broad.mit.edu	37	16	81765	81766	+	RNA	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:81765_81766insC	ENST00000568710.1	-	0	434																											GGCAACCCCTGCCCCCCATGTC	0.564																																						ENST00000568710.1																			0																																																			729486							g.chr16:81765_81766insC																													16.37:g.81771_81771dupC														0	434	-									RNA	INS	ENST00000568710.1	37																																																																																						0.564	Z84812.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000420570.1			8	715						8	715	---	---	---	---
SLX4	84464	broad.mit.edu	37	16	3634840	3634841	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:3634840_3634841insG	ENST00000294008.3	-	13	5308_5309	c.4668_4669insC	c.(4666-4671)cccaaafs	p.K1557fs	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1557	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ATGGGCACTTTGGGGGGCAAGT	0.5								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(4666-4671)ccaagtfs	Direct reversal of damage	SLX4 structure-specific endonuclease subunit				0,4264		0,0,2132						5.5	1.0			163	1,8247		0,1,4123	no	frameshift	SLX4	NM_032444.2		0,1,6255	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12511				SO:0001589	frameshift_variant	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3634840_3634841insG	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.4669dupC	16.37:g.3634846_3634846dupG	ENSP00000294008:p.Lys1557fs						p.S1557fs	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			13	5308_5309	-			1557			Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Frame_Shift_Ins	INS	ENST00000294008.3	37	c.4668_4669insC	CCDS10506.2																																																																																				0.500	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		17	1211						17	1211	---	---	---	---
PPL	5493	broad.mit.edu	37	16	4935688	4935689	+	Frame_Shift_Ins	INS	-	-	C	rs536356367	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:4935688_4935689insC	ENST00000345988.2	-	22	3056_3057	c.2967_2968insG	c.(2965-2970)gggcagfs	p.Q990fs	PPL_ENST00000590782.2_Frame_Shift_Ins_p.Q988fs	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	990					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ACGTACTCCTGCCCCCCGTCTC	0.668																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(2965-2970)ggaggafs		periplakin																																				SO:0001589	frameshift_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4935688_4935689insC	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2968dupG	16.37:g.4935694_4935694dupC	ENSP00000340510:p.Gln990fs					PPL_ENST00000590782.2_Frame_Shift_Ins_p.G988fs	p.G990fs	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	3056_3057	-			990					O60314|O60454|Q14C98	Frame_Shift_Ins	INS	ENST00000345988.2	37	c.2967_2968insG	CCDS10526.1																																																																																				0.668	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		10	353						10	353	---	---	---	---
CIITA	4261	broad.mit.edu	37	16	10995899	10995900	+	Frame_Shift_Ins	INS	-	-	C	rs555184617		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:10995899_10995900insC	ENST00000324288.8	+	7	619_620	c.486_487insC	c.(487-489)cccfs	p.P163fs	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	163					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCACAGCTGAGCCCCCCACTGT	0.634			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(484-489)gaccccfs		class II, major histocompatibility complex, transactivator																																				SO:0001589	frameshift_variant	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:10995899_10995900insC	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.492dupC	16.37:g.10995905_10995905dupC	ENSP00000316328:p.Pro163fs					CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Intron	p.DP162fs	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			7	619_620	+			162					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Frame_Shift_Ins	INS	ENST00000324288.8	37	c.486_487insC	CCDS10544.1																																																																																				0.634	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		11	1176						11	1176	---	---	---	---
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3303)ttccccfs	p.FP1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(3298-3300)tccfs		NODAL modulator 1																																				SO:0001589	frameshift_variant	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14980694_14980695insC	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3305dupC	16.37:g.14980700_14980700dupC	ENSP00000287667:p.Phe1100fs						p.S1100fs	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN			28	3470_3471	+			1100					P78421|Q8IW21|Q96DG0	Frame_Shift_Ins	INS	ENST00000287667.7	37	c.3299_3300insC	CCDS10556.1																																																																																				0.475	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			7	622						7	622	---	---	---	---
ACSM2A	123876	broad.mit.edu	37	16	20482935	20482937	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:20482935_20482937delTTA	ENST00000573854.1	+	6	932_934	c.818_820delTTA	c.(817-822)cttatg>ctg	p.M274del	ACSM2A_ENST00000396104.2_In_Frame_Del_p.M274del|ACSM2A_ENST00000417235.2_In_Frame_Del_p.M195del|ACSM2A_ENST00000219054.6_In_Frame_Del_p.M274del|ACSM2A_ENST00000575690.1_In_Frame_Del_p.M274del|ACSM2A_ENST00000536134.1_In_Frame_Del_p.M46del|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	274					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TTGTGCTCACTTATGGAACCTTG	0.438																																						ENST00000573854.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(817-822)ctg>c		acyl-CoA synthetase medium-chain family member 2A																																				SO:0001651	inframe_deletion	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20482935_20482937delTTA	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.818_820delTTA	16.37:g.20482935_20482937delTTA	ENSP00000459451:p.Met274del					ACSM2A_ENST00000536134.1_In_Frame_Del_p.LM45del|ACSM2A_ENST00000417235.2_In_Frame_Del_p.LM194del|ACSM2A_ENST00000575690.1_In_Frame_Del_p.LM273del|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_In_Frame_Del_p.LM273del|ACSM2A_ENST00000219054.6_In_Frame_Del_p.LM273del	p.LM273del	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN			6	932_934	+			273					B3KTT9|O75202	In_Frame_Del	DEL	ENST00000573854.1	37	c.818_820delTTA	CCDS32401.1																																																																																				0.438	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		11	1953						11	1953	---	---	---	---
ACSM2A	123876	broad.mit.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C	rs374997353		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1207-1209)cccfs	p.P403fs	ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.P403fs|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.P324fs|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.P403fs|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.P403fs|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.P175fs|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	403					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCAACGTCCTGCCCCCCGGCAC	0.505																																						ENST00000573854.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(1204-1209)ctccccfs		acyl-CoA synthetase medium-chain family member 2A																																				SO:0001589	frameshift_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20489924_20489925insC	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1212dupC	16.37:g.20489930_20489930dupC	ENSP00000459451:p.Pro403fs					ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.LP174fs|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.LP323fs|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.LP402fs	p.LP402fs	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN			10	1320_1321	+			402					B3KTT9|O75202	Frame_Shift_Ins	INS	ENST00000573854.1	37	c.1206_1207insC	CCDS32401.1																																																																																				0.505	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		7	289						7	289	---	---	---	---
ACSM2B	348158	broad.mit.edu	37	16	20556547	20556548	+	Frame_Shift_Ins	INS	-	-	G	rs367747928|rs146499503		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:20556547_20556548insG	ENST00000329697.6	-	10	1380_1381	c.1212_1213insC	c.(1210-1215)cccggcfs	p.G405fs	ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.G405fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.G405fs|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.G326fs	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	405					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTTCTGTGCCGGGGGGCAGGA	0.515																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1210-1215)ccgcacfs		acyl-CoA synthetase medium-chain family member 2B																																				SO:0001589	frameshift_variant	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20556547_20556548insG	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1213dupC	16.37:g.20556553_20556553dupG	ENSP00000327453:p.Gly405fs					ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs	p.H405fs	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			10	1380_1381	-			405					Q86YT1	Frame_Shift_Ins	INS	ENST00000329697.6	37	c.1212_1213insC	CCDS10586.1																																																																																				0.515	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		8	359						8	359	---	---	---	---
POLR3E	55718	broad.mit.edu	37	16	22339833	22339834	+	Frame_Shift_Ins	INS	-	-	C	rs200740325	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:22339833_22339834insC	ENST00000299853.5	+	19	2036_2037	c.1869_1870insC	c.(1870-1872)cccfs	p.P624fs	POLR3E_ENST00000564209.1_Frame_Shift_Ins_p.P624fs|POLR3E_ENST00000359210.4_Frame_Shift_Ins_p.P624fs|POLR3E_ENST00000418581.2_Frame_Shift_Ins_p.P588fs	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	624					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		TTGGTCAGTTTCCCCCCCAGAC	0.574																																						ENST00000299853.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1867-1872)ttccccfs		polymerase (RNA) III (DNA directed) polypeptide E (80kD)																																				SO:0001589	frameshift_variant	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22339833_22339834insC	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1876dupC	16.37:g.22339840_22339840dupC	ENSP00000299853:p.Pro624fs					POLR3E_ENST00000564209.1_Frame_Shift_Ins_p.FP623fs|POLR3E_ENST00000418581.2_Frame_Shift_Ins_p.FP587fs|POLR3E_ENST00000359210.4_Frame_Shift_Ins_p.FP623fs	p.FP623fs	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	19	2036_2037	+			623					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Frame_Shift_Ins	INS	ENST00000299853.5	37	c.1869_1870insC	CCDS10605.1																																																																																				0.574	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		7	133						7	133	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30733909	30733910	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:30733909_30733910insG	ENST00000262518.4	+	23	4117_4118	c.3732_3733insG	c.(3733-3735)gggfs	p.G1245fs	SRCAP_ENST00000395059.2_Intron|SRCAP_ENST00000344771.4_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1245	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCGTGTCAGCAGGGGGGCAGCA	0.614																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(3730-3735)gcggggfs		Snf2-related CREBBP activator protein																																				SO:0001589	frameshift_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30733909_30733910insG	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3738dupG	16.37:g.30733915_30733915dupG	ENSP00000262518:p.Gly1245fs					SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Intron	p.AG1244fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		23	4117_4118	+			1244			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Ins	INS	ENST00000262518.4	37	c.3732_3733insG	CCDS10689.2																																																																																				0.614	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		8	1033						8	1033	---	---	---	---
NKD1	85407	broad.mit.edu	37	16	50667134	50667135	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:50667134_50667135insC	ENST00000268459.3	+	10	1079_1080	c.855_856insC	c.(856-858)cccfs	p.P286fs		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	286					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGTCAGAACTGCCCCCCCGCAC	0.599																																						ENST00000268459.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(853-858)ctccccfs		naked cuticle homolog 1 (Drosophila)																																				SO:0001589	frameshift_variant	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50667134_50667135insC	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.862dupC	16.37:g.50667141_50667141dupC	ENSP00000268459:p.Pro286fs						p.LP285fs	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	10	1079_1080	+		all_cancers(37;0.229)	285					B2RC39|Q8WZ08	Frame_Shift_Ins	INS	ENST00000268459.3	37	c.855_856insC	CCDS10743.1																																																																																				0.599	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			9	110						9	110	---	---	---	---
DPEP2	64174	broad.mit.edu	37	16	68021467	68021468	+	Frame_Shift_Ins	INS	-	-	G	rs1133090	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:68021467_68021468insG	ENST00000572888.1	-	10	2052_2053	c.1402_1403insC	c.(1402-1404)cacfs	p.H468fs	DPEP2_ENST00000393847.1_Frame_Shift_Ins_p.H468fs|DPEP2_ENST00000412757.2_Frame_Shift_Ins_p.H468fs			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	468			H -> D (in dbSNP:rs1133090).		arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TGGGGCCATGTGGGGGGAGGAC	0.545																																						ENST00000412757.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1402-1404)catfs		dipeptidase 2																																				SO:0001589	frameshift_variant	64174				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68021467_68021468insG	AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.1403dupC	16.37:g.68021473_68021473dupG	ENSP00000458977:p.His468fs					DPEP2_ENST00000393847.1_Frame_Shift_Ins_p.H468fs|DPEP2_ENST00000572888.1_Frame_Shift_Ins_p.H468fs	p.H468fs			Q9H4A9	DPEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)	12	2067_2068	-		Ovarian(137;0.192)	468		H -> D (in dbSNP:rs1133090).			B2RCF8|Q6UX92|Q8TC95	Frame_Shift_Ins	INS	ENST00000572888.1	37	c.1402_1403insC	CCDS10857.1																																																																																				0.545	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355		10	710						10	710	---	---	---	---
SNTB2	6645	broad.mit.edu	37	16	69279579	69279580	+	Frame_Shift_Ins	INS	-	-	C	rs374025832		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:69279579_69279580insC	ENST00000336278.4	+	2	693_694	c.655_656insC	c.(655-657)gccfs	p.A219fs	SNTB2_ENST00000528525.1_3'UTR	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	219	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|microtubule (GO:0005874)|protein complex (GO:0043234)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		GGAAGGTGCAGCCCCCCAGTCA	0.45																																					NSCLC(58;1458 1722 3262 39967)|Melanoma(111;1698 2173 25379 28738)	ENST00000336278.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13						c.(655-657)cccfs		syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)																																				SO:0001589	frameshift_variant	6645					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding	g.chr16:69279579_69279580insC	U40572	CCDS10873.1	16q22.1	2008-05-14	2002-08-29		ENSG00000168807	ENSG00000168807			11169	protein-coding gene	gene with protein product		600027	"""syntrophin, beta 2 (dystrophin-associated protein A1, 59kD, basic component 2)"""	SNT2B2, SNTL, D16S2531E		8576247, 8183929	Standard	NM_006750		Approved	EST25263, SNT3	uc002ewu.3	Q13425	OTTHUMG00000137567	ENST00000336278.4:c.661dupC	16.37:g.69279585_69279585dupC	ENSP00000338191:p.Ala219fs					SNTB2_ENST00000528525.1_3'UTR	p.P219fs	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.208)	2	693_694	+		Ovarian(137;0.101)	219			PH 1.		Q9BY09	Frame_Shift_Ins	INS	ENST00000336278.4	37	c.655_656insC	CCDS10873.1																																																																																				0.450	SNTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268945.1			8	438						8	438	---	---	---	---
NPIPB15	440348	broad.mit.edu	37	16	74423894	74423895	+	Splice_Site	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:74423894_74423895insC	ENST00000429990.1	+	6	704_705	c.608_609insC	c.(607-612)atcccc>atCcccc	p.IP203fs				A6NHN6	NPB15_HUMAN	nuclear pore complex interacting protein family, member B15	203						extracellular region (GO:0005576)											CTTTTTCAGATCCCCCCTTCTG	0.455																																						ENST00000429990.1																			0											c.e6-1		nuclear pore complex interacting protein family, member B15																																				SO:0001630	splice_region_variant	440348							g.chr16:74423894_74423895insC	BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436			34409	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 2"""	NPIPL2			Standard	XM_005256273		Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.607-1->C	16.37:g.74423900_74423900dupC							p.T203_splice							6	704_705	+								C9J9U8	Splice_Site	INS	ENST00000429990.1	37	c.606_splice																																																																																					0.455	NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346597.2	NM_001018059	Frame_Shift_Ins	8	1121						8	1121	---	---	---	---
TERF2IP	54386	broad.mit.edu	37	16	75690386	75690388	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:75690386_75690388delTCC	ENST00000300086.4	+	3	1174_1176	c.1077_1079delTCC	c.(1075-1080)tatccc>tac	p.P360del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	360					negative regulation of DNA recombination at telomere (GO:0048239)|negative regulation of telomere maintenance (GO:0032205)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of transcription, DNA-templated (GO:0006355)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear chromosome (GO:0000228)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						CTGATGGATATCCCATTTGGTCC	0.453																																						ENST00000300086.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(1075-1080)tac>ta		telomeric repeat binding factor 2, interacting protein																																				SO:0001651	inframe_deletion	54386				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding	g.chr16:75690386_75690388delTCC	AK000669	CCDS32491.1	16q23.1	2012-10-03			ENSG00000166848	ENSG00000166848			19246	protein-coding gene	gene with protein product		605061				10850490	Standard	NM_018975		Approved	RAP1	uc002fet.2	Q9NYB0	OTTHUMG00000177136	ENST00000300086.4:c.1077_1079delTCC	16.37:g.75690386_75690388delTCC	ENSP00000300086:p.Pro360del						p.YP359del	NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN			3	1174_1176	+			359					B4DQN4|Q4W4Y2|Q8WYZ3|Q9NWR2	In_Frame_Del	DEL	ENST00000300086.4	37	c.1077_1079delTCC	CCDS32491.1																																																																																				0.453	TERF2IP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000435519.1	NM_018975		17	603						17	603	---	---	---	---
GLOD4	51031	broad.mit.edu	37	17	673668	673669	+	Frame_Shift_Ins	INS	-	-	G	rs148496651		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:673668_673669insG	ENST00000301328.5	-	7	690_691	c.667_668insC	c.(667-669)cagfs	p.Q223fs	GLOD4_ENST00000536578.1_Frame_Shift_Ins_p.Q199fs|GLOD4_ENST00000301329.6_Frame_Shift_Ins_p.Q208fs			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	223						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TACCTCTTTCTGGGGGCAAGAG	0.48																																						ENST00000301329.6																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(622-624)gaafs		glyoxalase domain containing 4																																				SO:0001589	frameshift_variant	51031					mitochondrion		g.chr17:673668_673669insG	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.668dupC	17.37:g.673673_673673dupG	ENSP00000301328:p.Gln223fs					GLOD4_ENST00000536578.1_Frame_Shift_Ins_p.E199fs|GLOD4_ENST00000301328.5_Frame_Shift_Ins_p.E223fs	p.E208fs	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	6	707_708	-			223					D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Frame_Shift_Ins	INS	ENST00000301328.5	37	c.622_623insC																																																																																					0.480	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		7	2408						7	2408	---	---	---	---
RPA1	6117	broad.mit.edu	37	17	1782982	1782983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:1782982_1782983insG	ENST00000254719.5	+	11	1191_1192	c.1081_1082insG	c.(1081-1083)tggfs	p.W361fs		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	361					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGCTACACTGTGGGGGGAAGAT	0.53								Nucleotide excision repair (NER)																														ENST00000254719.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						c.(1081-1083)gggfs	Nucleotide excision repair (NER)	replication protein A1, 70kDa																																				SO:0001589	frameshift_variant	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1782982_1782983insG	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1087dupG	17.37:g.1782988_1782988dupG	ENSP00000254719:p.Trp361fs						p.G361fs	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN			11	1191_1192	+			361					A8K0Y9|Q59ES9	Frame_Shift_Ins	INS	ENST00000254719.5	37	c.1081_1082insG	CCDS11014.1																																																																																				0.530	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		12	1114						12	1114	---	---	---	---
ZZEF1	23140	broad.mit.edu	37	17	3977519	3977520	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:3977519_3977520insC	ENST00000381638.2	-	24	3733_3734	c.3609_3610insG	c.(3607-3612)gggctgfs	p.L1204fs	ZZEF1_ENST00000574474.1_5'Flank	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1204							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGTAAATCCAGCCCCCAAGACA	0.579																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(3607-3612)ggtggafs		zinc finger, ZZ-type with EF-hand domain 1																																				SO:0001589	frameshift_variant	23140						calcium ion binding|zinc ion binding	g.chr17:3977519_3977520insC	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.3610dupG	17.37:g.3977524_3977524dupC	ENSP00000371051:p.Leu1204fs						p.G1204fs	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			24	3733_3734	-			1204					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Frame_Shift_Ins	INS	ENST00000381638.2	37	c.3609_3610insG	CCDS11043.1																																																																																				0.579	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		8	2035						8	2035	---	---	---	---
PLD2	5338	broad.mit.edu	37	17	4719138	4719139	+	Frame_Shift_Ins	INS	-	-	G	rs368018438		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:4719138_4719139insG	ENST00000263088.6	+	14	1495_1496	c.1364_1365insG	c.(1363-1368)ctggggfs	p.LG455fs	PLD2_ENST00000572940.1_Frame_Shift_Ins_p.LG455fs	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	455	Catalytic.|PLD phosphodiesterase 1. {ECO:0000255|PROSITE-ProRule:PRU00153}.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GTAGCATTCCTGGGGGGACTGG	0.594											OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263088.6																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1363-1365)cggfs		phospholipase D2	Choline(DB00122)																																			SO:0001589	frameshift_variant	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4719138_4719139insG	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.1370dupG	17.37:g.4719144_4719144dupG	ENSP00000263088:p.Leu455fs		OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	621	PLD2_ENST00000572940.1_Frame_Shift_Ins_p.R455fs	p.R455fs	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN			14	1495_1496	+			455			Catalytic.|PLD phosphodiesterase 1.		I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Frame_Shift_Ins	INS	ENST00000263088.6	37	c.1364_1365insG	CCDS11057.1																																																																																				0.594	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		7	813						7	813	---	---	---	---
CAMTA2	23125	broad.mit.edu	37	17	4884523	4884524	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:4884523_4884524insC	ENST00000348066.3	-	8	819_820	c.696_697insG	c.(694-699)gggcttfs	p.L233fs	CAMTA2_ENST00000361571.5_Frame_Shift_Ins_p.L232fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.L238fs|CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.L256fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.L235fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.L233fs	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	233					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AACTTACCAAGCCCCCCACTGC	0.55											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361571.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(691-696)ggttggfs		calmodulin binding transcription activator 2																																				SO:0001589	frameshift_variant	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4884523_4884524insC	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.697dupG	17.37:g.4884529_4884529dupC	ENSP00000321813:p.Leu233fs		OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	622	CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.W233fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.W235fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.W256fs|CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.W233fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.W238fs	p.W232fs	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN			7	1104_1105	-			233					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Frame_Shift_Ins	INS	ENST00000348066.3	37	c.693_694insG	CCDS11063.1																																																																																				0.550	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		7	1115						7	1115	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579470	7579471	+	Frame_Shift_Ins	INS	-	-	G	rs56275308|rs587782423		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:7579470_7579471insG	ENST00000269305.4	-	4	405_406	c.216_217insC	c.(214-219)cccgtgfs	p.V73fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.V73fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.V73fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Ins_p.V73fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.V73fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.V73fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	73	Interaction with HRMT1L2.|Interaction with WWOX.		V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V73fs*76(11)|p.0?(8)|p.V73L(3)|p.G59fs*23(3)|p.R72fs*51(2)|p.V73M(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.V73fs*50(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAGGGGCCACGGGGGGAGCAG	0.604		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		37	Insertion - Frameshift(11)|Deletion - Frameshift(9)|Whole gene deletion(8)|Substitution - Missense(5)|Complex - frameshift(3)|Deletion - In frame(1)	p.V73fs*76(11)|p.0?(8)|p.V73L(3)|p.G59fs*23(3)|p.R72fs*51(2)|p.V73M(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.V73fs*50(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)	upper_aerodigestive_tract(6)|lung(6)|breast(4)|bone(4)|central_nervous_system(3)|biliary_tract(3)|urinary_tract(3)|large_intestine(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|ovary(1)|prostate(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CI920954	TP53	I		c.(214-219)cctggcfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579470_7579471insG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.217dupC	17.37:g.7579476_7579476dupG	ENSP00000269305:p.Val73fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.G73fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.G73fs	p.G73fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	348_349	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	73		V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).	Interaction with HRMT1L2.|Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.216_217insC	CCDS11118.1																																																																																				0.604	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	1004						14	1004	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7696373	7696374	+	Frame_Shift_Ins	INS	-	-	G	rs372173393		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:7696373_7696374insG	ENST00000572933.1	+	48	8879_8880	c.7419_7420insG	c.(7420-7422)gggfs	p.G2474fs	DNAH2_ENST00000389173.2_Frame_Shift_Ins_p.G2474fs			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2474	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACGTGCCATTCGGGGGCAAAAG	0.51																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(7417-7422)ttggggfs		dynein, axonemal, heavy chain 2																																				SO:0001589	frameshift_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7696373_7696374insG	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7424dupG	17.37:g.7696378_7696378dupG	ENSP00000458355:p.Gly2474fs					DNAH2_ENST00000389173.2_Frame_Shift_Ins_p.LG2473fs	p.LG2473fs			Q9P225	DYH2_HUMAN			48	8879_8880	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2473			AAA 3 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Frame_Shift_Ins	INS	ENST00000572933.1	37	c.7419_7420insG	CCDS32551.1																																																																																				0.510	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		8	1179						8	1179	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7798764	7798765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:7798764_7798765insC	ENST00000330494.7	+	10	1761_1762	c.1611_1612insC	c.(1612-1614)cccfs	p.P538fs	CHD3_ENST00000358181.4_Frame_Shift_Ins_p.P538fs|CHD3_ENST00000380358.4_Frame_Shift_Ins_p.P597fs	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	538	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAGATGTCCCACCCCCCCGTCC	0.574																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(1786-1791)ccccccfs		chromodomain helicase DNA binding protein 3																																				SO:0001589	frameshift_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7798764_7798765insC	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1618dupC	17.37:g.7798771_7798771dupC	ENSP00000332628:p.Pro538fs					CHD3_ENST00000330494.7_Frame_Shift_Ins_p.PP537fs|CHD3_ENST00000358181.4_Frame_Shift_Ins_p.PP537fs	p.PP596fs	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			10	1789_1790	+		Prostate(122;0.202)	537					D3DTQ9|E9PG89|Q9Y4I0	Frame_Shift_Ins	INS	ENST00000330494.7	37	c.1788_1789insC	CCDS32554.1																																																																																				0.574	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		53	679						53	679	---	---	---	---
CTC1	80169	broad.mit.edu	37	17	8138564	8138565	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:8138564_8138565insC	ENST00000315684.8	-	8	1252_1253	c.1245_1246insG	c.(1243-1248)gggacafs	p.T416fs	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	416					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGCCTTCTTGTCCCCCCTCCCA	0.584																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(1243-1248)ggcaagfs		CTS telomere maintenance complex component 1																																				SO:0001589	frameshift_variant	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8138564_8138565insC	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1246dupG	17.37:g.8138570_8138570dupC	ENSP00000313759:p.Thr416fs						p.K416fs	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			8	1252_1253	-			416					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Frame_Shift_Ins	INS	ENST00000315684.8	37	c.1245_1246insG	CCDS42259.1																																																																																				0.584	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		7	371						7	371	---	---	---	---
ARHGEF15	22899	broad.mit.edu	37	17	8224297	8224298	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:8224297_8224298insC	ENST00000361926.3	+	16	2622_2623	c.2512_2513insC	c.(2512-2514)gccfs	p.A838fs	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.A838fs	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	838					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CACCCCCAATGCCCCCCCACCC	0.574																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(2512-2514)cccfs		Rho guanine nucleotide exchange factor (GEF) 15																																				SO:0001589	frameshift_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8224297_8224298insC	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.2519dupC	17.37:g.8224304_8224304dupC	ENSP00000355026:p.Ala838fs					ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.P838fs	p.P838fs	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			16	2622_2623	+			838					A8K6G1|Q8N449|Q9H8B4	Frame_Shift_Ins	INS	ENST00000361926.3	37	c.2512_2513insC	CCDS11139.1																																																																																				0.574	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		11	196						11	196	---	---	---	---
TOP3A	7156	broad.mit.edu	37	17	18196068	18196069	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:18196068_18196069insC	ENST00000321105.5	-	11	1385_1386	c.1171_1172insG	c.(1171-1173)gccfs	p.A391fs	TOP3A_ENST00000542570.1_Frame_Shift_Ins_p.A296fs|TOP3A_ENST00000540524.1_Intron	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	391					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CTGGGCAAAGGCCCCCCAGCGT	0.55																																						ENST00000321105.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						c.(1171-1173)cttfs		topoisomerase (DNA) III alpha																																				SO:0001589	frameshift_variant	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18196068_18196069insC	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1172dupG	17.37:g.18196074_18196074dupC	ENSP00000321636:p.Ala391fs					TOP3A_ENST00000540524.1_Intron|TOP3A_ENST00000542570.1_Frame_Shift_Ins_p.L296fs	p.L391fs	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN			11	1385_1386	-			391					A8KA61|B4DK80|D3DXC7|Q13473	Frame_Shift_Ins	INS	ENST00000321105.5	37	c.1171_1172insG	CCDS11194.1																																																																																				0.550	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			7	630						7	630	---	---	---	---
EPN2	22905	broad.mit.edu	37	17	19232053	19232054	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:19232053_19232054insG	ENST00000314728.5	+	8	1661_1662	c.1177_1178insG	c.(1177-1179)tggfs	p.W393fs	EPN2_ENST00000395620.2_Frame_Shift_Ins_p.W336fs|EPN2_ENST00000571254.1_Frame_Shift_Ins_p.W329fs|EPN2_ENST00000395618.3_Frame_Shift_Ins_p.W108fs|EPN2_ENST00000395626.1_Frame_Shift_Ins_p.W393fs|EPN2_ENST00000347697.2_Frame_Shift_Ins_p.W336fs|EPN2_ENST00000575595.1_Frame_Shift_Ins_p.W101fs	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	393	6 X 3 AA repeats of [DE]-P-W.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CATTGACCCATGGGGGGTGCCC	0.599																																						ENST00000314728.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19						c.(1177-1179)gggfs		epsin 2																																				SO:0001589	frameshift_variant	22905				endocytosis		lipid binding	g.chr17:19232053_19232054insG	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.1183dupG	17.37:g.19232059_19232059dupG	ENSP00000320543:p.Trp393fs					EPN2_ENST00000395626.1_Frame_Shift_Ins_p.G393fs|EPN2_ENST00000347697.2_Frame_Shift_Ins_p.G336fs|EPN2_ENST00000395618.3_Frame_Shift_Ins_p.G108fs|EPN2_ENST00000395620.2_Frame_Shift_Ins_p.G336fs|EPN2_ENST00000571254.1_Frame_Shift_Ins_p.G329fs|EPN2_ENST00000575595.1_Frame_Shift_Ins_p.G101fs	p.G393fs	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN			8	1661_1662	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		393			6 X 3 AA repeats of [DE]-P-W.		A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Frame_Shift_Ins	INS	ENST00000314728.5	37	c.1177_1178insG	CCDS11203.1																																																																																				0.599	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		8	572						8	572	---	---	---	---
KIAA0100	9703	broad.mit.edu	37	17	26962586	26962587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:26962586_26962587insG	ENST00000528896.2	-	16	2092_2093	c.2018_2019insC	c.(2017-2019)ccafs	p.P673fs	KIAA0100_ENST00000544884.1_Frame_Shift_Ins_p.P530fs|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Frame_Shift_Ins_p.P530fs|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	673						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ACATGTGATCTGGGGGGCTCCA	0.505																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(2017-2019)cgafs		KIAA0100																																				SO:0001589	frameshift_variant	9703					extracellular region		g.chr17:26962586_26962587insG	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2019dupC	17.37:g.26962592_26962592dupG	ENSP00000436773:p.Pro673fs					KIAA0100_ENST00000389003.3_Frame_Shift_Ins_p.R530fs|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Frame_Shift_Ins_p.R530fs	p.R673fs	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			16	2092_2093	-	Lung NSC(42;0.00431)		673					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Frame_Shift_Ins	INS	ENST00000528896.2	37	c.2018_2019insC	CCDS32595.1																																																																																				0.505	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		8	271						8	271	---	---	---	---
ASIC2	40	broad.mit.edu	37	17	31439004	31439005	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:31439004_31439005insC	ENST00000359872.6	-	2	1397_1398	c.636_637insG	c.(634-639)gggacafs	p.T213fs	ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000225823.2_Frame_Shift_Ins_p.T264fs|RP11-40A13.1_ENST00000584688.1_RNA	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	213					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	CCGTTGCCTGTCCCCCCCTTGA	0.55																																						ENST00000225823.2																			0											c.(787-792)ggcaggfs		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)																																			SO:0001589	frameshift_variant	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31439004_31439005insC	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.637dupG	17.37:g.31439011_31439011dupC	ENSP00000352934:p.Thr213fs					RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000359872.6_Frame_Shift_Ins_p.R213fs	p.R264fs	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN			2	1661_1662	-			213					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Frame_Shift_Ins	INS	ENST00000359872.6	37	c.789_790insG	CCDS42296.1																																																																																				0.550	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		10	392						10	392	---	---	---	---
ACACA	31	broad.mit.edu	37	17	35487100	35487101	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:35487100_35487101insC	ENST00000394406.2	-	46	5802_5803	c.5612_5613insG	c.(5611-5613)ggcfs	p.G1871fs	ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.G1813fs|ACACA_ENST00000353139.5_Frame_Shift_Ins_p.G1908fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.G1793fs	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1871	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TAATCTGGATGCCCCCCAGCTG	0.495																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(5722-5724)gatfs		acetyl-CoA carboxylase alpha	Biotin(DB00121)																																			SO:0001589	frameshift_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35487100_35487101insC	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.5613dupG	17.37:g.35487106_35487106dupC	ENSP00000377928:p.Gly1871fs					ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.D1871fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.D1793fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.D1813fs	p.D1908fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			46	6204_6205	-		Breast(25;0.00157)|Ovarian(249;0.15)	1871			Carboxyltransferase.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Frame_Shift_Ins	INS	ENST00000394406.2	37	c.5723_5724insG	CCDS11317.1																																																																																				0.495	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		14	843						14	843	---	---	---	---
CASC3	22794	broad.mit.edu	37	17	38323810	38323811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:38323810_38323811insC	ENST00000264645.7	+	9	1822_1823	c.1596_1597insC	c.(1597-1599)cccfs	p.P533fs		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	533	Necessary for localization in cytoplasmic stress granules.				gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CTGTGCCAGAGCCCCCCGCCCC	0.5																																						ENST00000264645.7																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						c.(1594-1599)gaccccfs		cancer susceptibility candidate 3																																				SO:0001589	frameshift_variant	22794				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	g.chr17:38323810_38323811insC	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.1602dupC	17.37:g.38323816_38323816dupC	ENSP00000264645:p.Pro533fs						p.DP532fs	NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN			9	1822_1823	+			532			Necessary for localization in cytoplasmic stress granules.		A8K8R0	Frame_Shift_Ins	INS	ENST00000264645.7	37	c.1596_1597insC	CCDS11362.1																																																																																				0.500	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359		8	404						8	404	---	---	---	---
WNK4	65266	broad.mit.edu	37	17	40939869	40939870	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:40939869_40939870insG	ENST00000246914.5	+	8	1836_1837	c.1815_1816insG	c.(1816-1818)gggfs	p.G606fs	WNK4_ENST00000587705.1_Intron	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	606					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTCAGCCCCCTGGGGGGGTGCC	0.634																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(1813-1818)ccggggfs		WNK lysine deficient protein kinase 4																																				SO:0001589	frameshift_variant	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40939869_40939870insG	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1822dupG	17.37:g.40939876_40939876dupG	ENSP00000246914:p.Gly606fs					WNK4_ENST00000587705.1_Intron	p.PG605fs	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	8	1836_1837	+		Breast(137;0.000143)	605					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Frame_Shift_Ins	INS	ENST00000246914.5	37	c.1815_1816insG	CCDS11439.1																																																																																				0.634	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			11	186						11	186	---	---	---	---
AOC2	314	broad.mit.edu	37	17	40996940	40996941	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:40996940_40996941insC	ENST00000253799.3	+	1	324_325	c.297_298insC	c.(298-300)cccfs	p.P100fs	AOC2_ENST00000452774.2_Frame_Shift_Ins_p.P100fs	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	100					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AGCTGCAGCTGCCCCCCAAGGC	0.678																																						ENST00000253799.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30						c.(295-300)ctccccfs		amine oxidase, copper containing 2 (retina-specific)																																				SO:0001589	frameshift_variant	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:40996940_40996941insC	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.303dupC	17.37:g.40996946_40996946dupC	ENSP00000253799:p.Pro100fs					AOC2_ENST00000452774.2_Frame_Shift_Ins_p.LP99fs	p.LP99fs	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	324_325	+		Breast(137;0.000143)	99					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Frame_Shift_Ins	INS	ENST00000253799.3	37	c.297_298insC	CCDS11443.1																																																																																				0.678	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		7	231						7	231	---	---	---	---
ETV4	2118	broad.mit.edu	37	17	41610700	41610701	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:41610700_41610701insG	ENST00000319349.5	-	7	697_698	c.399_400insC	c.(397-402)cccagafs	p.R134fs	ETV4_ENST00000545089.1_Intron|ETV4_ENST00000591713.1_Frame_Shift_Ins_p.R134fs|ETV4_ENST00000545954.1_Frame_Shift_Ins_p.R95fs|ETV4_ENST00000586826.1_5'Flank|ETV4_ENST00000393664.2_Frame_Shift_Ins_p.R134fs|ETV4_ENST00000538265.1_Frame_Shift_Ins_p.R95fs	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	134					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GCGATTTGTCTGGGGGGGTCAT	0.579			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""																																Esophageal Squamous(116;1540 1611 12927 31103 34118)	ENST00000319349.5				Dom	yes		17	17q21	2118	T	"""ets variant gene 4 (E1A enhancer binding protein, E1AF)"""			"""M, E"""	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""		"""Ewing sarcoma, Prostate carcinoma"""	EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(397-402)ccgacafs		ets variant 4																																				SO:0001589	frameshift_variant	2118				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:41610700_41610701insG	U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"""E1A enhancer binding protein"""	600711	"""ets variant gene 4 (E1A enhancer-binding protein, E1AF)"""			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.400dupC	17.37:g.41610707_41610707dupG	ENSP00000321835:p.Arg134fs					ETV4_ENST00000538265.1_Frame_Shift_Ins_p.T95fs|ETV4_ENST00000591713.1_Frame_Shift_Ins_p.T134fs|ETV4_ENST00000393664.2_Frame_Shift_Ins_p.T134fs|ETV4_ENST00000545954.1_Frame_Shift_Ins_p.T95fs|ETV4_ENST00000545089.1_Intron	p.T134fs	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0798)	7	697_698	-		Breast(137;0.00908)	134					A8K314|B7Z5J3|B7Z9J6|Q96AW9	Frame_Shift_Ins	INS	ENST00000319349.5	37	c.399_400insC	CCDS11465.1																																																																																				0.579	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1	NM_001986		8	141						8	141	---	---	---	---
CD300LG	146894	broad.mit.edu	37	17	41931337	41931338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:41931337_41931338insC	ENST00000317310.4	+	4	685_686	c.644_645insC	c.(643-648)cgccccfs	p.RP215fs	CD300LG_ENST00000293396.8_Frame_Shift_Ins_p.RP130fs|CD300LG_ENST00000539718.1_Frame_Shift_Ins_p.RP215fs|CD300LG_ENST00000586233.1_Frame_Shift_Ins_p.RP130fs|CD300LG_ENST00000377203.4_Frame_Shift_Ins_p.RP181fs	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	215					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGAGCTCCCGCCCCCCCATGC	0.629																																						ENST00000317310.4																			0				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19						c.(643-645)cccfs		CD300 molecule-like family member g																																				SO:0001589	frameshift_variant	146894					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity	g.chr17:41931337_41931338insC	BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"""Immunoglobulin superfamily / V-set domain containing"""	30455	protein-coding gene	gene with protein product	"""nepmucin"""	610520	"""CD300 antigen like family member G"""			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.651dupC	17.37:g.41931344_41931344dupC	ENSP00000321005:p.Arg215fs					CD300LG_ENST00000539718.1_Frame_Shift_Ins_p.P215fs|CD300LG_ENST00000293396.8_Frame_Shift_Ins_p.P130fs|CD300LG_ENST00000377203.4_Frame_Shift_Ins_p.P181fs|CD300LG_ENST00000586233.1_Frame_Shift_Ins_p.P130fs	p.P215fs	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	4	685_686	+		Breast(137;0.0199)	215					B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Frame_Shift_Ins	INS	ENST00000317310.4	37	c.644_645insC	CCDS11470.1																																																																																				0.629	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457646.1	NM_145273		12	240						12	240	---	---	---	---
UBTF	7343	broad.mit.edu	37	17	42290652	42290653	+	Splice_Site	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:42290652_42290653insG	ENST00000302904.4	-	6	967		c.e6-2		UBTF_ENST00000527034.1_Splice_Site|UBTF_ENST00000533177.1_Splice_Site|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000529383.1_Splice_Site|UBTF_ENST00000526094.1_Splice_Site|UBTF_ENST00000393606.3_Splice_Site|UBTF_ENST00000343638.5_Splice_Site|UBTF_ENST00000436088.1_Splice_Site|UBTF_ENST00000537550.1_5'Flank			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I						chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ATATTTCATCTGGGGGGAGGAG	0.599																																						ENST00000302904.4																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.e6-2		upstream binding transcription factor, RNA polymerase I																																				SO:0001630	splice_region_variant	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42290652_42290653insG	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.475-2->C	17.37:g.42290658_42290658dupG						UBTF_ENST00000436088.1_Splice_Site|UBTF_ENST00000526094.1_Splice_Site|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000529383.1_Splice_Site|UBTF_ENST00000343638.5_Splice_Site|UBTF_ENST00000527034.1_Splice_Site|UBTF_ENST00000393606.3_Splice_Site|UBTF_ENST00000533177.1_Splice_Site				P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	6	967	-		Breast(137;0.00765)|Prostate(33;0.0181)						A8K6R8	Splice_Site	INS	ENST00000302904.4	37		CCDS11480.1																																																																																				0.599	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233	Intron	7	170						7	170	---	---	---	---
GPATCH8	23131	broad.mit.edu	37	17	42475531	42475532	+	Frame_Shift_Ins	INS	-	-	G	rs34826608		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:42475531_42475532insG	ENST00000591680.1	-	8	3943_3944	c.3913_3914insC	c.(3913-3915)ctgfs	p.L1305fs	GPATCH8_ENST00000434000.1_Frame_Shift_Ins_p.L1227fs	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1305							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTGGCTTTCCAGGGGGGCCAGT	0.559																																						ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(3679-3681)ggafs		G patch domain containing 8																																				SO:0001589	frameshift_variant	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42475531_42475532insG	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.3914dupC	17.37:g.42475537_42475537dupG	ENSP00000467556:p.Leu1305fs					GPATCH8_ENST00000591680.1_Frame_Shift_Ins_p.G1305fs	p.G1227fs			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	3961_3962	-		Prostate(33;0.0181)	1305					B9EGP9|O60300|Q8TB99	Frame_Shift_Ins	INS	ENST00000591680.1	37	c.3679_3680insC	CCDS32666.1																																																																																				0.559	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		8	633						8	633	---	---	---	---
GPATCH8	23131	broad.mit.edu	37	17	42476335	42476336	+	Frame_Shift_Ins	INS	-	-	G	rs138327092		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:42476335_42476336insG	ENST00000591680.1	-	8	3139_3140	c.3109_3110insC	c.(3109-3111)cacfs	p.H1037fs	GPATCH8_ENST00000434000.1_Frame_Shift_Ins_p.H959fs	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1037							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TCGGAAATAGTGGGGGGACTGG	0.55																																						ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(2875-2877)ctafs		G patch domain containing 8																																				SO:0001589	frameshift_variant	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42476335_42476336insG	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.3110dupC	17.37:g.42476341_42476341dupG	ENSP00000467556:p.His1037fs					GPATCH8_ENST00000591680.1_Frame_Shift_Ins_p.L1037fs	p.L959fs			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	3157_3158	-		Prostate(33;0.0181)	1037			Ser-rich.		B9EGP9|O60300|Q8TB99	Frame_Shift_Ins	INS	ENST00000591680.1	37	c.2875_2876insC	CCDS32666.1																																																																																				0.550	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		7	318						7	318	---	---	---	---
MRPL10	124995	broad.mit.edu	37	17	45905873	45905874	+	Frame_Shift_Ins	INS	-	-	G	rs147331240		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:45905873_45905874insG	ENST00000351111.2	-	2	220_221	c.215_216insC	c.(214-216)ccafs	p.P72fs	MRPL10_ENST00000290208.7_Frame_Shift_Ins_p.P82fs|MRPL10_ENST00000414011.1_Frame_Shift_Ins_p.P82fs	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	72					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						TTACCTCCTGTGGGGGGCTGGG	0.525																																						ENST00000290208.7																			0				endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						c.(244-246)ccafs		mitochondrial ribosomal protein L10			,	0,4264		0,0,2132					,	-10.1	0.0			44	1,8253		0,1,4126	no	frameshift,frameshift	MRPL10	NM_148887.2,NM_145255.3	,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12517				SO:0001589	frameshift_variant	124995				ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr17:45905873_45905874insG	AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"""Mitochondrial ribosomal proteins / large subunits"""	14055	protein-coding gene	gene with protein product	"""39S ribosomal protein L10, mitochondrial"""	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.216dupC	17.37:g.45905879_45905879dupG	ENSP00000324100:p.Pro72fs					MRPL10_ENST00000351111.2_Frame_Shift_Ins_p.P72fs|MRPL10_ENST00000414011.1_Frame_Shift_Ins_p.P82fs	p.P82fs			Q7Z7H8	RM10_HUMAN			2	697_698	-			72					A6NGJ4|Q96B80|Q96Q55	Frame_Shift_Ins	INS	ENST00000351111.2	37	c.245_246insC	CCDS11516.1																																																																																				0.525	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1	NM_145255		7	568						7	568	---	---	---	---
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:50008356_50008357insC	ENST00000285273.4	-	4	1383_1384	c.272_273insG	c.(271-273)ggcfs	p.G91fs	CA10_ENST00000340813.6_Frame_Shift_Ins_p.G97fs|CA10_ENST00000451037.2_Frame_Shift_Ins_p.G91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.G16fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.G91fs	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development (GO:0007420)			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TTACCTTCCTGCCCCCCGTGTT	0.49																																						ENST00000451037.2																			1	Substitution - Missense(1)	p.G91V(1)	lung(1)	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41						c.(271-273)gagfs		carbonic anhydrase X																																				SO:0001589	frameshift_variant	56934				brain development			g.chr17:50008356_50008357insC	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.273dupG	17.37:g.50008362_50008362dupC	ENSP00000285273:p.Gly91fs					CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs|CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs	p.E91fs	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		3	1212_1213	-			91					B2R7J0|B4DGL6	Frame_Shift_Ins	INS	ENST00000285273.4	37	c.272_273insG	CCDS32684.1																																																																																				0.490	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		28	1848						28	1848	---	---	---	---
MTMR4	9110	broad.mit.edu	37	17	56590245	56590246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:56590245_56590246insG	ENST00000323456.5	-	3	184_185	c.60_61insC	c.(58-63)cccaagfs	p.K21fs	MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.K21fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	21					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.K21fs*20(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTAGTTCCTTGGGGGGGAACA	0.569																																						ENST00000323456.5																			1	Insertion - Frameshift(1)	p.K21fs*20(1)	large_intestine(1)	breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(58-63)ccaggafs		myotubularin related protein 4																																				SO:0001589	frameshift_variant	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56590245_56590246insG	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.61dupC	17.37:g.56590252_56590252dupG	ENSP00000325285:p.Lys21fs					MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.G21fs	p.G21fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			3	184_185	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		21					D3DTZ6|Q8IV27|Q9Y4D5	Frame_Shift_Ins	INS	ENST00000323456.5	37	c.60_61insC	CCDS11608.1																																																																																				0.569	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		10	318						10	318	---	---	---	---
TRMT112P3	729667	broad.mit.edu	37	17	61028282	61028283	+	lincRNA	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:61028282_61028283insC	ENST00000582505.1	-	0	354																											ACTGCAAGGTGCCCCCCATCAC	0.55																																						ENST00000582505.1																			0																																																			729667							g.chr17:61028282_61028283insC																													17.37:g.61028288_61028288dupC														0	354	-									RNA	INS	ENST00000582505.1	37																																																																																						0.550	RP11-180P8.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000444762.1			7	185						7	185	---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62049212	62049213	+	Splice_Site	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:62049212_62049213insG	ENST00000435607.1	-	4	559		c.e4-2		CTC-264K15.6_ENST00000577329.1_lincRNA|SCN4A_ENST00000578147.1_Splice_Site	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit						membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGGTGTACCTGGGGGGGAGAG	0.589																																						ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.e4-2		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)																																			SO:0001630	splice_region_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62049212_62049213insG	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.483-2->C	17.37:g.62049219_62049219dupG						SCN4A_ENST00000435607.1_Splice_Site				P35499	SCN4A_HUMAN			4	559	-								Q15478|Q16447|Q7Z6B1	Splice_Site	INS	ENST00000435607.1	37		CCDS45761.1																																																																																				0.589	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	Intron	9	165						9	165	---	---	---	---
AXIN2	8313	broad.mit.edu	37	17	63532584	63532585	+	Frame_Shift_Ins	INS	-	-	C	rs267606674		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:63532584_63532585insC	ENST00000375702.5	-	6	1907_1908	c.1799_1800insG	c.(1798-1800)ggcfs	p.G600fs	AXIN2_ENST00000307078.5_Frame_Shift_Ins_p.G665fs			Q9Y2T1	AXIN2_HUMAN	axin 2	640				Missing (in Ref. 2; AAF22799). {ECO:0000305}.	bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GCCCGCTGTTGCCCCCCCACAG	0.658									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000307078.5																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34	GRCh37	CI002733	AXIN2	I		c.(1993-1995)gaafs		axin 2																																				SO:0001589	frameshift_variant	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63532584_63532585insC	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1800dupG	17.37:g.63532591_63532591dupC	ENSP00000364854:p.Gly600fs					AXIN2_ENST00000375702.5_Frame_Shift_Ins_p.E600fs	p.E665fs	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN			8	2307_2308	-			665					Q3MJ88|Q9H3M6|Q9UH84	Frame_Shift_Ins	INS	ENST00000375702.5	37	c.1994_1995insG																																																																																					0.658	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		8	111						8	111	---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G	rs200065915	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)caafs	p.Q1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(3709-3711)aagfs		ATP-binding cassette, sub-family A (ABC1), member 6																																				SO:0001589	frameshift_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67083603_67083604insG	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.3710dupC	17.37:g.67083609_67083609dupG	ENSP00000284425:p.Gln1237fs					ABCA6_ENST00000446604.2_5'UTR	p.K1237fs	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			29	3883_3884	-	Breast(10;5.65e-12)		1237					Q6NSH9|Q8N856|Q8WWZ6	Frame_Shift_Ins	INS	ENST00000284425.2	37	c.3709_3710insC	CCDS11683.1																																																																																				0.376	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		22	984						22	984	---	---	---	---
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:71223356_71223357insG	ENST00000403627.3	-	2	328_329	c.268_269insC	c.(268-270)cagfs	p.Q90fs	FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000405159.3_Frame_Shift_Ins_p.Q90fs|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000583178.1_5'UTR	NM_032837.2	NP_116226.2	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416																																						ENST00000405159.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(268-270)gacfs		family with sequence similarity 104, member A																																				SO:0001589	frameshift_variant	84923							g.chr17:71223356_71223357insG	AK027681	CCDS11693.2, CCDS45766.1, CCDS74143.1, CCDS74144.1	17q25.1	2005-12-16			ENSG00000133193	ENSG00000133193			25918	protein-coding gene	gene with protein product							Standard	NM_032837		Approved	FLJ14775	uc002jjj.4	Q969W3	OTTHUMG00000150564	ENST00000403627.3:c.269dupC	17.37:g.71223363_71223363dupG	ENSP00000384648:p.Gln90fs					FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000580032.1_5'UTR	p.D90fs	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		2	332_333	-			90					B4E339	Frame_Shift_Ins	INS	ENST00000403627.3	37	c.268_269insC	CCDS11693.2																																																																																				0.416	FAM104A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318935.1	NM_032837		10	378						10	378	---	---	---	---
CDC42EP4	23580	broad.mit.edu	37	17	71281585	71281587	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:71281585_71281587delTCC	ENST00000335793.3	-	2	1447_1449	c.1053_1055delGGA	c.(1051-1056)gaggat>gat	p.E351del	CDC42EP4_ENST00000439510.2_In_Frame_Del_p.E281del|CDC42EP4_ENST00000581014.1_3'UTR			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	351					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			ACGGATTTCATCCTCCTCCTCCT	0.64																																						ENST00000335793.3																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14						c.(1051-1056)gat>ga		CDC42 effector protein (Rho GTPase binding) 4																																				SO:0001651	inframe_deletion	23580				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	g.chr17:71281585_71281587delTCC	AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"""Cdc42 effector protein 4"", ""binder of Rho GTPases 4"""	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.1053_1055delGGA	17.37:g.71281594_71281596delTCC	ENSP00000338258:p.Glu351del					CDC42EP4_ENST00000581014.1_3'UTR|CDC42EP4_ENST00000439510.2_In_Frame_Del_p.ED281del	p.ED351del			Q9H3Q1	BORG4_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		2	1447_1449	-			351					B3KUS7|O95828|Q96FT3	In_Frame_Del	DEL	ENST00000335793.3	37	c.1053_1055delGGA	CCDS11695.1																																																																																				0.640	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1	NM_012121		8	563						8	563	---	---	---	---
SDK2	54549	broad.mit.edu	37	17	71427673	71427674	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:71427673_71427674insC	ENST00000392650.3	-	11	1447_1448	c.1447_1448insG	c.(1447-1449)gtcfs	p.V483fs	SDK2_ENST00000388726.3_Frame_Shift_Ins_p.V483fs	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	483	Ig-like C2-type 5.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGCCTCATCGACCCCCCGAGAG	0.604																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(1447-1449)cgafs		sidekick cell adhesion molecule 2																																				SO:0001589	frameshift_variant	54549				cell adhesion	integral to membrane		g.chr17:71427673_71427674insC	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1448dupG	17.37:g.71427679_71427679dupC	ENSP00000376421:p.Val483fs					SDK2_ENST00000388726.3_Frame_Shift_Ins_p.R483fs	p.R483fs	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			11	1447_1448	-			483			Ig-like C2-type 5.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Frame_Shift_Ins	INS	ENST00000392650.3	37	c.1447_1448insG	CCDS45769.1																																																																																				0.604	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		9	332						9	332	---	---	---	---
ICT1	3396	broad.mit.edu	37	17	73015832	73015833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:73015832_73015833insG	ENST00000301585.5	+	3	274_275	c.261_262insG	c.(262-264)gggfs	p.G88fs		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	88					mitochondrial translational termination (GO:0070126)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|translation release factor activity, codon nonspecific (GO:0016150)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					GTAGTGGTCCTGGGGGGCAGAA	0.441																																						ENST00000301585.5																			0				NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6						c.(259-264)ccggggfs		immature colon carcinoma transcript 1																																				SO:0001589	frameshift_variant	3396				mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific	g.chr17:73015832_73015833insG	X81788	CCDS11711.1	17q25	2014-02-12				ENSG00000167862			5359	protein-coding gene	gene with protein product		603000				8575443, 20186120	Standard	NM_001545		Approved	DS-1	uc002jmm.3	Q14197		ENST00000301585.5:c.267dupG	17.37:g.73015838_73015838dupG	ENSP00000301585:p.Gly88fs						p.PG87fs	NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN			3	274_275	+	all_lung(278;0.226)		87					B2RAD1|Q53HM7|Q53Y11	Frame_Shift_Ins	INS	ENST00000301585.5	37	c.261_262insG	CCDS11711.1																																																																																				0.441	ICT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445314.1	NM_001545		14	976						14	976	---	---	---	---
SLC16A5	9121	broad.mit.edu	37	17	73094187	73094188	+	Frame_Shift_Ins	INS	-	-	G	rs528355389		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:73094187_73094188insG	ENST00000450736.2	+	3	669_670	c.254_255insG	c.(253-258)ctggggfs	p.LG85fs	SLC16A5_ENST00000538213.2_Frame_Shift_Ins_p.LG125fs|SLC16A5_ENST00000580123.1_Frame_Shift_Ins_p.LG85fs|SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000329783.4_Frame_Shift_Ins_p.LG85fs			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	85					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	ACCGTGATGCTGGGGGGCGTGC	0.614																																						ENST00000450736.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(253-255)cggfs		solute carrier family 16 (monocarboxylate transporter), member 5	Pyruvic acid(DB00119)																																			SO:0001589	frameshift_variant	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73094187_73094188insG	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.260dupG	17.37:g.73094193_73094193dupG	ENSP00000390564:p.Leu85fs					SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000580123.1_Frame_Shift_Ins_p.R85fs|SLC16A5_ENST00000329783.4_Frame_Shift_Ins_p.R85fs|SLC16A5_ENST00000538213.2_Frame_Shift_Ins_p.R125fs	p.R85fs			O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		3	669_670	+	all_lung(278;0.226)		85					B4E288	Frame_Shift_Ins	INS	ENST00000450736.2	37	c.254_255insG	CCDS11713.1																																																																																				0.614	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		8	814						8	814	---	---	---	---
EXOC7	23265	broad.mit.edu	37	17	74087246	74087247	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:74087246_74087247insC	ENST00000335146.7	-	7	931_932	c.878_879insG	c.(877-879)ggcfs	p.G293fs	EXOC7_ENST00000607838.1_Frame_Shift_Ins_p.G293fs|EXOC7_ENST00000405575.4_Frame_Shift_Ins_p.G293fs|EXOC7_ENST00000411744.2_Intron|EXOC7_ENST00000332065.5_Intron|EXOC7_ENST00000467929.2_Frame_Shift_Ins_p.G252fs|EXOC7_ENST00000589210.1_Frame_Shift_Ins_p.G293fs			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	293					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TGAGGTTAGAGCCCCCCTTTTT	0.554																																						ENST00000607838.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14						c.(877-879)gtcfs		exocyst complex component 7																																				SO:0001589	frameshift_variant	23265				exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	g.chr17:74087246_74087247insC	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.879dupG	17.37:g.74087252_74087252dupC	ENSP00000334100:p.Gly293fs					EXOC7_ENST00000411744.2_Intron|EXOC7_ENST00000589210.1_Frame_Shift_Ins_p.V293fs|EXOC7_ENST00000335146.7_Frame_Shift_Ins_p.V293fs|EXOC7_ENST00000332065.5_Intron|EXOC7_ENST00000467929.2_Frame_Shift_Ins_p.V252fs|EXOC7_ENST00000405575.4_Frame_Shift_Ins_p.V293fs	p.V293fs	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		7	972_973	-			293					B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Frame_Shift_Ins	INS	ENST00000335146.7	37	c.878_879insG	CCDS45782.1																																																																																				0.554	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219		11	831						11	831	---	---	---	---
SEC14L1	6397	broad.mit.edu	37	17	75208208	75208209	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:75208208_75208209insAA	ENST00000413679.2	+	15	2091_2092	c.1788_1789insAA	c.(1789-1791)aaafs	p.K597fs	SEC14L1_ENST00000591437.1_Frame_Shift_Ins_p.K563fs|SEC14L1_ENST00000443798.4_Frame_Shift_Ins_p.K597fs|SEC14L1_ENST00000392476.2_Frame_Shift_Ins_p.K597fs|SEC14L1_ENST00000436233.4_Frame_Shift_Ins_p.K597fs|SEC14L1_ENST00000585618.1_Frame_Shift_Ins_p.K597fs|SEC14L1_ENST00000430767.4_Frame_Shift_Ins_p.K597fs|SEC14L1_ENST00000431431.2_Frame_Shift_Ins_p.K563fs	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	597	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						AGCTCATAGACAAAGTCTGGCA	0.545																																						ENST00000413679.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.(1786-1791)gaaagtfs		SEC14-like 1 (S. cerevisiae)																																				SO:0001589	frameshift_variant	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75208208_75208209insAA	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1789_1790dupAA	17.37:g.75208209_75208210dupAA	ENSP00000394716:p.Lys597fs					SEC14L1_ENST00000443798.4_Frame_Shift_Ins_p.S597fs|SEC14L1_ENST00000591437.1_Frame_Shift_Ins_p.S563fs|SEC14L1_ENST00000436233.4_Frame_Shift_Ins_p.S597fs|SEC14L1_ENST00000430767.4_Frame_Shift_Ins_p.S597fs|SEC14L1_ENST00000392476.2_Frame_Shift_Ins_p.S597fs|SEC14L1_ENST00000585618.1_Frame_Shift_Ins_p.S597fs|SEC14L1_ENST00000431431.2_Frame_Shift_Ins_p.S563fs	p.S597fs	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN			15	2091_2092	+			597			GOLD.		A8K4E8|B4DDI5|D5G3K1|Q99780	Frame_Shift_Ins	INS	ENST00000413679.2	37	c.1788_1789insAA	CCDS11752.1																																																																																				0.545	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		69	206						69	206	---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5397069	5397069	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr18:5397069delT	ENST00000341928.2	-	18	3169	c.2829delA	c.(2827-2829)aaafs	p.K943fs	EPB41L3_ENST00000542146.1_Frame_Shift_Del_p.K248fs|EPB41L3_ENST00000342933.3_Frame_Shift_Del_p.K943fs|EPB41L3_ENST00000544123.1_Frame_Shift_Del_p.K774fs|EPB41L3_ENST00000540638.2_Frame_Shift_Del_p.K721fs|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Frame_Shift_Del_p.K240fs|EPB41L3_ENST00000400111.3_Frame_Shift_Del_p.K721fs	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	943	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CAAAATGAGGTTTTTGTTCCA	0.413																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2827-2829)aafs		erythrocyte membrane protein band 4.1-like 3							73.0	73.0	73.0					18																	5397069		2203	4300	6503	SO:0001589	frameshift_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5397069delT	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2829delA	18.37:g.5397069delT	ENSP00000343158:p.Lys943fs					EPB41L3_ENST00000400111.3_Frame_Shift_Del_p.K721fs|EPB41L3_ENST00000540638.2_Frame_Shift_Del_p.K721fs|EPB41L3_ENST00000342933.3_Frame_Shift_Del_p.K943fs|EPB41L3_ENST00000544123.1_Frame_Shift_Del_p.K774fs|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Frame_Shift_Del_p.K248fs|EPB41L3_ENST00000427684.2_Frame_Shift_Del_p.K240fs	p.K943fs	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			18	3169	-			943			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Frame_Shift_Del	DEL	ENST00000341928.2	37	c.2829delA	CCDS11838.1																																																																																				0.413	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		36	80						36	80	---	---	---	---
SH2D3A	10045	broad.mit.edu	37	19	6755179	6755180	+	Frame_Shift_Ins	INS	-	-	G	rs139813452		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:6755179_6755180insG	ENST00000245908.6	-	5	912_913	c.643_644insC	c.(643-645)cggfs	p.R215fs	SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.R93fs|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	215					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGAGGGTGTCCGGGGGGGCTTC	0.653																																						ENST00000245908.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(643-645)gacfs		SH2 domain containing 3A																																				SO:0001589	frameshift_variant	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6755179_6755180insG	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.644dupC	19.37:g.6755186_6755186dupG	ENSP00000245908:p.Arg215fs					SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.D93fs|SH2D3A_ENST00000599563.1_5'UTR	p.D215fs	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN			5	912_913	-			215					A8K9R6|B4DRS7|Q9Y2X4	Frame_Shift_Ins	INS	ENST00000245908.6	37	c.643_644insC	CCDS12173.1																																																																																				0.653	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		22	617						22	617	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G	rs558504850	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:9064309_9064310insG	ENST00000397910.4	-	3	23339_23340	c.23136_23137insC	c.(23134-23139)ccctctfs	p.S7713fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7715	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGGGGAGAGGGGGGGATAT	0.53																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(23134-23139)ccctccfs		mucin 16, cell surface associated																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064309_9064310insG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23137dupC	19.37:g.9064316_9064316dupG	ENSP00000381008:p.Ser7713fs						p.S7713fs	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	23339_23340	-			7715			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.23136_23137insC	CCDS54212.1																																																																																				0.530	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		14	442						14	442	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G	rs369470867		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:10291083_10291084insG	ENST00000340748.4	-	4	622_623	c.387_388insC	c.(385-390)cccaaafs	p.K130fs	DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.K130fs|DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.K130fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	130	Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GAAAGGGGTTTGGGGGGGCTGT	0.495																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(385-390)ccaaccfs		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)																																			SO:0001589	frameshift_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10291083_10291084insG	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.388dupC	19.37:g.10291090_10291090dupG	ENSP00000345739:p.Lys130fs					DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.T130fs	p.T130fs			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		4	622_623	-			130			Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Frame_Shift_Ins	INS	ENST00000340748.4	37	c.387_388insC	CCDS12228.1																																																																																				0.495	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		13	218						13	218	---	---	---	---
ZNF823	55552	broad.mit.edu	37	19	11833874	11833875	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:11833874_11833875insG	ENST00000341191.6	-	4	627_628	c.474_475insC	c.(472-477)cccaccfs	p.T159fs	CTC-499B15.6_ENST00000586983.1_RNA|ZNF823_ENST00000545749.1_5'UTR	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TTCTTTCCGGTGGGGGGCCTTT	0.47										HNSCC(68;0.2)																												ENST00000341191.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						c.(472-477)ccccggfs		zinc finger protein 823																																				SO:0001589	frameshift_variant	55552				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11833874_11833875insG	X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"""Zinc fingers, C2H2-type"", ""-"""	30936	protein-coding gene	gene with protein product	"""ZFP 36 for a zinc finger protein"""						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.475dupC	19.37:g.11833880_11833880dupG	ENSP00000340683:p.Thr159fs	HNSCC(68;0.2)				ZNF823_ENST00000545749.1_5'UTR	p.R159fs	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN			4	627_628	-			159					A0PJL4|B7Z8D4|Q6P4A9	Frame_Shift_Ins	INS	ENST00000341191.6	37	c.474_475insC	CCDS45981.1																																																																																				0.470	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493		7	209						7	209	---	---	---	---
ZNF625	90589	broad.mit.edu	37	19	12256750	12256751	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:12256750_12256751insC	ENST00000355738.1	-	4	631_632	c.282_283insG	c.(280-285)gggaaafs	p.K95fs	ZNF625_ENST00000455799.1_3'UTR|CTC-359D24.3_ENST00000472362.1_RNA|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000439556.2_Frame_Shift_Ins_p.K161fs|ZNF625_ENST00000542938.1_Frame_Shift_Ins_p.K95fs			Q96I27	ZN625_HUMAN	zinc finger protein 625	95					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TCATAAGGTTTCCCCCCAGTGT	0.421																																						ENST00000355738.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						c.(280-285)ggaaccfs		zinc finger protein 625																																				SO:0001589	frameshift_variant	90589				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12256750_12256751insC	BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.283dupG	19.37:g.12256756_12256756dupC	ENSP00000347977:p.Lys95fs					ZNF625_ENST00000542938.1_Frame_Shift_Ins_p.T95fs|ZNF625_ENST00000439556.2_Frame_Shift_Ins_p.T161fs|ZNF625_ENST00000455799.1_3'UTR|ZNF625-ZNF20_ENST00000430024.1_Intron	p.T95fs			Q96I27	ZN625_HUMAN			4	631_632	-			95					A4FU45|I3L0E9	Frame_Shift_Ins	INS	ENST00000355738.1	37	c.282_283insG																																																																																					0.421	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		NM_145233		11	681						11	681	---	---	---	---
ZNF443	10224	broad.mit.edu	37	19	12542363	12542364	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:12542363_12542364insA	ENST00000301547.5	-	4	819_820	c.622_623insT	c.(622-624)tggfs	p.W208fs	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	208					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TAAACTGGGCCAAAAAAACGCT	0.406																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(622-624)gccfs		zinc finger protein 443																																				SO:0001589	frameshift_variant	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12542363_12542364insA	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.623dupT	19.37:g.12542370_12542370dupA	ENSP00000301547:p.Trp208fs					CTD-3105H18.16_ENST00000595562.1_Intron	p.A208fs	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	819_820	-			208						Frame_Shift_Ins	INS	ENST00000301547.5	37	c.622_623insT	CCDS32918.1																																																																																				0.406	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		8	349						8	349	---	---	---	---
SLC1A6	6511	broad.mit.edu	37	19	15067446	15067447	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:15067446_15067447insC	ENST00000221742.3	-	6	1017_1018	c.1010_1011insG	c.(1009-1011)ggtfs	p.G337fs	SLC1A6_ENST00000600144.1_Intron|SLC1A6_ENST00000430939.2_Frame_Shift_Ins_p.G273fs	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	337					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						TGCCCAGCTGACCCCCCAGGAC	0.584																																						ENST00000430939.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(817-819)gcafs		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15067446_15067447insC		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1011dupG	19.37:g.15067452_15067452dupC	ENSP00000221742:p.Gly337fs					SLC1A6_ENST00000600144.1_Intron|SLC1A6_ENST00000221742.3_Frame_Shift_Ins_p.A337fs	p.A273fs			P48664	EAA4_HUMAN			6	947_948	-			337					Q8N753	Frame_Shift_Ins	INS	ENST00000221742.3	37	c.818_819insG	CCDS12321.1																																																																																				0.584	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		8	714						8	714	---	---	---	---
CIB3	117286	broad.mit.edu	37	19	16275653	16275654	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:16275653_16275654insC	ENST00000269878.4	-	5	466_467	c.417_418insG	c.(415-420)gggctgfs	p.L140fs	CIB3_ENST00000379859.3_Frame_Shift_Ins_p.L91fs|CIB3_ENST00000541493.1_5'UTR	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	140							calcium ion binding (GO:0005509)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						TCGGCACTCAGCCCCCCCCGCG	0.564																																						ENST00000269878.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(415-420)ggtgagfs		calcium and integrin binding family member 3																																				SO:0001589	frameshift_variant	117286						calcium ion binding	g.chr19:16275653_16275654insC	AB050868	CCDS12340.1, CCDS74305.1	19p13.12	2013-01-10						"""EF-hand domain containing"""	24580	protein-coding gene	gene with protein product		610645					Standard	XM_005259728		Approved	KIP3	uc002nds.3	Q96Q77		ENST00000269878.4:c.418dupG	19.37:g.16275661_16275661dupC	ENSP00000269878:p.Leu140fs					CIB3_ENST00000379859.3_Frame_Shift_Ins_p.E91fs|CIB3_ENST00000541493.1_5'UTR	p.E140fs	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN			5	466_467	-			140					E7EUX1|Q2M1W0|Q6ISP1	Frame_Shift_Ins	INS	ENST00000269878.4	37	c.417_418insG	CCDS12340.1																																																																																				0.564	CIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460351.1	NM_054113		9	320						9	320	---	---	---	---
C19orf44	84167	broad.mit.edu	37	19	16633993	16633994	+	IGR	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:16633993_16633994insG	ENST00000221671.3	+	0	3427				CHERP_ENST00000546361.2_Frame_Shift_Ins_p.H617fs|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000198939.6_Frame_Shift_Ins_p.H628fs	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44											endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GTTGAAGCCATGGGGGGGAGGG	0.673																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1849-1851)tggfs		calcium homeostasis endoplasmic reticulum protein																																				SO:0001628	intergenic_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16633993_16633994insG	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5			19.37:g.16634000_16634000dupG						CHERP_ENST00000198939.6_Frame_Shift_Ins_p.W628fs|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000544299.1_5'UTR	p.W617fs	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			11	2000_2001	-			617			Pro-rich.		Q8N6Y7	Frame_Shift_Ins	INS	ENST00000221671.3	37	c.1849_1850insC	CCDS12345.1																																																																																				0.673	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		9	119						9	119	---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17039883	17039884	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:17039883_17039884insC	ENST00000443236.1	-	24	3184_3185	c.3153_3154insG	c.(3151-3156)gggcatfs	p.H1052fs		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1005						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.H1052fs*30(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTGTTCTGATGCCCCCCCAGGA	0.584																																						ENST00000443236.1																			1	Insertion - Frameshift(1)	p.H1052fs*30(1)	ovary(1)	breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(3151-3156)ggatcafs		C3 and PZP-like, alpha-2-macroglobulin domain containing 8																																				SO:0001589	frameshift_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17039883_17039884insC	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3154dupG	19.37:g.17039890_17039890dupC	ENSP00000402505:p.His1052fs						p.S1052fs	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			24	3184_3185	-			1005					Q8NC09|Q9ULD7	Frame_Shift_Ins	INS	ENST00000443236.1	37	c.3153_3154insG	CCDS42519.1																																																																																				0.584	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		7	156						7	156	---	---	---	---
MPV17L2	84769	broad.mit.edu	37	19	18305818	18305819	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:18305818_18305819insC	ENST00000599612.2	+	4	586_587	c.486_487insC	c.(487-489)cccfs	p.P163fs		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	163						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|urinary_tract(1)	4						TCCTCTTCGTGCCCCCCCAATT	0.653																																						ENST00000599612.2																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4						c.(484-489)gtccccfs		MPV17 mitochondrial membrane protein-like 2																																				SO:0001589	frameshift_variant	84769					integral to membrane		g.chr19:18305818_18305819insC	AK094091	CCDS42522.1	19p13.11	2011-05-26			ENSG00000254858	ENSG00000254858			28177	protein-coding gene	gene with protein product						12477932	Standard	NM_032683		Approved	FKSG24, MGC12972	uc002nid.3	Q567V2	OTTHUMG00000165628	ENST00000599612.2:c.493dupC	19.37:g.18305825_18305825dupC	ENSP00000469836:p.Pro163fs					MPV17L2_ENST00000534474.2_Frame_Shift_Ins_p.P137fs	p.VP162fs	NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN			4	586_587	+			162					Q96P34|Q96QA0|Q9BSG4	Frame_Shift_Ins	INS	ENST00000599612.2	37	c.486_487insC	CCDS42522.1																																																																																				0.653	MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466294.2	NM_032683		14	184						14	184	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:31769141_31769142insC	ENST00000240587.4	-	2	1884_1885	c.1557_1558insG	c.(1555-1560)gggcttfs	p.L520fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	520					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATATCAAGCCCCCCCTTGG	0.5																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1555-1560)ggttgafs		teashirt zinc finger homeobox 3																																				SO:0001589	frameshift_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769141_31769142insC	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1558dupG	19.37:g.31769148_31769148dupC	ENSP00000240587:p.Leu520fs						p.*520fs	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	1884_1885	-	Esophageal squamous(110;0.226)		520					Q9H0G6|Q9P254	Frame_Shift_Ins	INS	ENST00000240587.4	37	c.1557_1558insG	CCDS12421.2																																																																																				0.500	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		11	348						11	348	---	---	---	---
KIRREL2	84063	broad.mit.edu	37	19	36357213	36357214	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:36357213_36357214insC	ENST00000360202.5	+	15	2144_2145	c.1946_1947insC	c.(1945-1950)gtccccfs	p.VP649fs	KIRREL2_ENST00000592409.1_Frame_Shift_Ins_p.VP614fs|NPHS1_ENST00000591817.1_Intron|APLP1_ENST00000221891.4_5'Flank|KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000262625.7_Intron|APLP1_ENST00000537454.2_5'Flank	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	649	Pro-rich.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGGCATGGTCCCCCCCTGCA	0.629																																						ENST00000360202.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48						c.(1945-1947)gccfs		kin of IRRE like 2 (Drosophila)			,,	3,4261		0,3,2129					,,	1.6	0.0			87	3,8251		0,3,4124	no	frameshift,intron,intron	KIRREL2	NM_199180.2,NM_199179.2,NM_032123.5	,,	0,6,6253	A1A1,A1R,RR		0.0363,0.0704,0.0479	,,	,,		6,12512				SO:0001589	frameshift_variant	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36357213_36357214insC	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.1953dupC	19.37:g.36357220_36357220dupC	ENSP00000353331:p.Val649fs					KIRREL2_ENST00000586102.2_Frame_Shift_Ins_p.A629fs|KIRREL2_ENST00000592409.1_Frame_Shift_Ins_p.A614fs|KIRREL2_ENST00000347900.6_Intron|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Intron	p.A649fs	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		15	2144_2145	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		649			Pro-rich.		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Frame_Shift_Ins	INS	ENST00000360202.5	37	c.1946_1947insC	CCDS12481.1																																																																																				0.629	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		7	106						7	106	---	---	---	---
FAM98C	147965	broad.mit.edu	37	19	38899415	38899416	+	Frame_Shift_Ins	INS	-	-	G	rs551110568|rs559497541|rs375320861		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:38899415_38899416insG	ENST00000252530.5	+	8	962_963	c.943_944insG	c.(943-945)cggfs	p.R315fs	FAM98C_ENST00000343358.7_Frame_Shift_Ins_p.R233fs|FAM98C_ENST00000588262.1_Frame_Shift_Ins_p.PG181fs	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	315								p.R315L(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGTTCCAGACCGGGGGGGCCGC	0.564																																						ENST00000252530.5																			1	Substitution - Missense(1)	p.R315L(1)	lung(1)	endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(943-945)gggfs		family with sequence similarity 98, member C																																				SO:0001589	frameshift_variant	147965							g.chr19:38899415_38899416insG		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.950dupG	19.37:g.38899422_38899422dupG	ENSP00000252530:p.Arg315fs					FAM98C_ENST00000343358.7_Frame_Shift_Ins_p.G233fs|FAM98C_ENST00000588262.1_Frame_Shift_Ins_p.R181fs	p.G315fs	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		8	962_963	+	all_cancers(60;3.95e-06)		315					A6NMW3|Q66K45	Frame_Shift_Ins	INS	ENST00000252530.5	37	c.943_944insG	CCDS42562.1																																																																																				0.564	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		9	113						9	113	---	---	---	---
LGALS17A	400696	broad.mit.edu	37	19	40172016	40172017	+	RNA	INS	-	-	G	rs374539533|rs28457128	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:40172016_40172017insG	ENST00000412609.1	+	0	61																											GAATCTGTTACGGGGGGGAGGC	0.584																																					Colon(98;189 2488 3678)	ENST00000412609.1																			0																	15,4201		0,15,2093						-2.6	0.0			61	18,8128		0,18,4055	no	intergenic				0,33,6148	A1A1,A1R,RR		0.221,0.3558,0.2669				33,12329						400696							g.chr19:40172016_40172017insG																													19.37:g.40172023_40172023dupG														0	61	+									RNA	INS	ENST00000412609.1	37																																																																																						0.584	LGALS17A-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000280514.1			7	55						7	55	---	---	---	---
FBL	2091	broad.mit.edu	37	19	40325192	40325193	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:40325192_40325193insG	ENST00000221801.3	-	9	1064_1065	c.951_952insC	c.(949-954)cccaagfs	p.K318fs	DYRK1B_ENST00000430012.2_5'Flank|FBL_ENST00000593503.1_5'UTR|DYRK1B_ENST00000593685.1_5'Flank|DYRK1B_ENST00000597639.1_5'Flank|DYRK1B_ENST00000348817.3_5'Flank|DYRK1B_ENST00000601972.1_5'Flank|DYRK1B_ENST00000323039.5_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	318					histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TTCTTCACCTTGGGGGGTGGCC	0.505																																						ENST00000221801.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(949-954)ccaggtfs		fibrillarin																																				SO:0001589	frameshift_variant	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40325192_40325193insG	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.952dupC	19.37:g.40325198_40325198dupG	ENSP00000221801:p.Lys318fs					FBL_ENST00000593503.1_5'UTR	p.G318fs	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	9	1064_1065	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	318					B5BUE8|O75259|Q6IAT5|Q9UPI6	Frame_Shift_Ins	INS	ENST00000221801.3	37	c.951_952insC	CCDS12545.1																																																																																				0.505	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		14	804						14	804	---	---	---	---
CYP2A13	1553	broad.mit.edu	37	19	41601781	41601782	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:41601781_41601782insC	ENST00000330436.3	+	9	1420_1421	c.1420_1421insC	c.(1420-1422)tccfs	p.S474fs		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	474					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	TATCGACGTGTCCCCCAAACAC	0.589																																						ENST00000330436.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(1420-1422)cccfs		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)																																			SO:0001589	frameshift_variant	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41601781_41601782insC	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.1425dupC	19.37:g.41601786_41601786dupC	ENSP00000332679:p.Ser474fs						p.P474fs	NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			9	1420_1421	+			474					Q53YR8|Q6R569|Q6R570|Q9H2X2	Frame_Shift_Ins	INS	ENST00000330436.3	37	c.1420_1421insC	CCDS12571.1																																																																																				0.589	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		10	1327						10	1327	---	---	---	---
CEACAM5	1048	broad.mit.edu	37	19	42224865	42224866	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:42224865_42224866insC	ENST00000221992.6	+	8	1909_1910	c.1795_1796insC	c.(1795-1797)tccfs	p.S599fs	CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.S598fs|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.S599fs	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	599	Ig-like 7.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCCATCATTTCCCCCCCAGAC	0.545																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1795-1797)cccfs		carcinoembryonic antigen-related cell adhesion molecule 5																																				SO:0001589	frameshift_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42224865_42224866insC	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1802dupC	19.37:g.42224872_42224872dupC	ENSP00000221992:p.Ser599fs					CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.P599fs|CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.P598fs|CEA_ENST00000598976.1_Intron	p.P599fs	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	8	1909_1910	+			599			Ig-like 7.		H9KVA7	Frame_Shift_Ins	INS	ENST00000221992.6	37	c.1795_1796insC	CCDS12584.1																																																																																				0.545	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		20	597						20	597	---	---	---	---
CLASRP	11129	broad.mit.edu	37	19	45556128	45556129	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:45556128_45556129insC	ENST00000221455.3	+	4	375_376	c.277_278insC	c.(277-279)accfs	p.T93fs	CLASRP_ENST00000544944.2_Frame_Shift_Ins_p.T93fs|CLASRP_ENST00000391953.4_Intron	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	93					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.L96fs*17(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCCCGACTACACCCCCCCTCTG	0.614																																						ENST00000544944.2																			1	Insertion - Frameshift(1)	p.L96fs*17(1)	lung(1)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(277-279)cccfs		CLK4-associating serine/arginine rich protein																																				SO:0001589	frameshift_variant	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45556128_45556129insC	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.284dupC	19.37:g.45556135_45556135dupC	ENSP00000221455:p.Thr93fs					CLASRP_ENST00000221455.3_Frame_Shift_Ins_p.P93fs|CLASRP_ENST00000391953.4_Intron	p.P93fs			Q8N2M8	CLASR_HUMAN			3	969_970	+			93					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Frame_Shift_Ins	INS	ENST00000221455.3	37	c.277_278insC	CCDS12652.2																																																																																				0.614	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		21	846						21	846	---	---	---	---
SLC8A2	6543	broad.mit.edu	37	19	47935586	47935587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:47935586_47935587insG	ENST00000236877.6	-	9	2621_2622	c.2226_2227insC	c.(2224-2229)cccaccfs	p.T743fs	SLC8A2_ENST00000542837.1_Frame_Shift_Ins_p.T499fs|SLC8A2_ENST00000539381.1_Frame_Shift_Ins_p.T206fs|SLC8A2_ENST00000601757.1_5'Flank	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	743					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CAGTACTCGGTGGGGGGCACAC	0.649																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(2224-2229)ccccgafs		solute carrier family 8 (sodium/calcium exchanger), member 2																																				SO:0001589	frameshift_variant	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47935586_47935587insG	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2227dupC	19.37:g.47935592_47935592dupG	ENSP00000236877:p.Thr743fs					SLC8A2_ENST00000542837.1_Frame_Shift_Ins_p.R499fs|SLC8A2_ENST00000539381.1_Frame_Shift_Ins_p.R206fs	p.R743fs	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	9	2621_2622	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	743					B4DYQ9	Frame_Shift_Ins	INS	ENST00000236877.6	37	c.2226_2227insC	CCDS33065.1																																																																																				0.649	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			9	419						9	419	---	---	---	---
FAM83E	54854	broad.mit.edu	37	19	49107037	49107038	+	Frame_Shift_Ins	INS	-	-	G	rs560890077	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:49107037_49107038insG	ENST00000263266.3	-	4	1078_1079	c.889_890insC	c.(889-891)cagfs	p.Q297fs	SPACA4_ENST00000321762.1_5'Flank	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	297										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CGAGGGTTTCTGGGGGGGCGCA	0.723																																						ENST00000263266.3																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10						c.(889-891)gaafs		family with sequence similarity 83, member E																																				SO:0001589	frameshift_variant	54854							g.chr19:49107037_49107038insG	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.890dupC	19.37:g.49107044_49107044dupG	ENSP00000263266:p.Gln297fs						p.E297fs	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	4	1078_1079	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	297					Q9NXK1	Frame_Shift_Ins	INS	ENST00000263266.3	37	c.889_890insC	CCDS42587.1																																																																																				0.723	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708		7	40						7	40	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:50243063_50243064insG	ENST00000246801.3	-	11	1830_1831	c.1748_1749insC	c.(1747-1749)ccafs	p.P583fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.P383fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	583					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCCTGTTTTGGGGGGGTTCC	0.545																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1747-1749)caafs		testis-specific serine kinase substrate																																				SO:0001589	frameshift_variant	60385						protein binding	g.chr19:50243063_50243064insG	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1749dupC	19.37:g.50243070_50243070dupG	ENSP00000246801:p.Pro583fs					TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs	p.Q583fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	11	1830_1831	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	583					Q8WXJ0	Frame_Shift_Ins	INS	ENST00000246801.3	37	c.1748_1749insC	CCDS12780.1																																																																																				0.545	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		21	376						21	376	---	---	---	---
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)gggactfs	p.T15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	GTCTCACCAGTCCCCCCCAGGG	0.653																																						ENST00000301420.2																			0				breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13						c.(40-45)ggctggfs		kallikrein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3816				proteolysis	nucleus	serine-type endopeptidase activity	g.chr19:51326962_51326963insC	L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"""Kallikreins"""	6357	protein-coding gene	gene with protein product		147910	"""kallikrein 1, renal/pancreas/salivary"""			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.43dupG	19.37:g.51326969_51326969dupC	ENSP00000301420:p.Thr15fs					KLK1_ENST00000448701.2_5'UTR	p.W15fs	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	1	77_78	-		all_neural(266;0.0199)	15					Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Frame_Shift_Ins	INS	ENST00000301420.2	37	c.42_43insG	CCDS12804.1																																																																																				0.653	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2	NM_002257		7	307						7	307	---	---	---	---
ZNF175	7728	broad.mit.edu	37	19	52090436	52090437	+	Frame_Shift_Ins	INS	-	-	G	rs138396190		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:52090436_52090437insG	ENST00000262259.2	+	5	1210_1211	c.852_853insG	c.(853-855)gggfs	p.G285fs	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	285					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTTCTGAATGTGGGGGGAGCTT	0.441																																						ENST00000262259.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(850-855)tgggggfs		zinc finger protein 175																																				SO:0001589	frameshift_variant	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52090436_52090437insG	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.858dupG	19.37:g.52090442_52090442dupG	ENSP00000262259:p.Gly285fs					ZNF175_ENST00000436511.2_Intron	p.WG284fs	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	1210_1211	+		all_neural(266;0.0299)	284					A8K9H2	Frame_Shift_Ins	INS	ENST00000262259.2	37	c.852_853insG	CCDS12837.1																																																																																				0.441	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		8	546						8	546	---	---	---	---
ZNF649	65251	broad.mit.edu	37	19	52394013	52394014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:52394013_52394014insC	ENST00000354957.3	-	5	1659_1660	c.1375_1376insG	c.(1375-1377)gatfs	p.D459fs	ZNF577_ENST00000485702.1_5'Flank|ZNF577_ENST00000451628.2_5'Flank|ZNF577_ENST00000420592.1_5'Flank|ZNF577_ENST00000301399.5_5'Flank|ZNF649_ENST00000600738.1_Frame_Shift_Ins_p.D431fs|ZNF577_ENST00000412216.1_5'Flank|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTTCACTGAATCCCCCCGTTTC	0.45																																						ENST00000354957.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29						c.(1375-1377)ttcfs		zinc finger protein 649																																				SO:0001589	frameshift_variant	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394013_52394014insC	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.1376dupG	19.37:g.52394019_52394019dupC	ENSP00000347043:p.Asp459fs					CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Frame_Shift_Ins_p.F431fs	p.F459fs	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1659_1660	-		all_neural(266;0.0602)	459					A8MYJ5|B2RDC4|Q9H9N2	Frame_Shift_Ins	INS	ENST00000354957.3	37	c.1375_1376insG	CCDS12843.1																																																																																				0.450	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		7	2280						7	2280	---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56443532	56443533	+	Frame_Shift_Ins	INS	-	-	G	rs369052597		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:56443532_56443533insG	ENST00000342929.3	-	1	144_145	c.145_146insC	c.(145-147)cagfs	p.Q49fs	NLRP13_ENST00000588751.1_Frame_Shift_Ins_p.Q49fs	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	49	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GAAGTGCCCCTGGGGGGCCGAC	0.554																																						ENST00000588751.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109						c.(145-147)gggfs		NLR family, pyrin domain containing 13																																				SO:0001589	frameshift_variant	126204						ATP binding	g.chr19:56443532_56443533insG	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.146dupC	19.37:g.56443538_56443538dupG	ENSP00000343891:p.Gln49fs					NLRP13_ENST00000342929.3_Frame_Shift_Ins_p.G49fs	p.G49fs			Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	1	169_170	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	49			DAPIN.		Q7RTR5	Frame_Shift_Ins	INS	ENST00000342929.3	37	c.145_146insC	CCDS33119.1																																																																																				0.554	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		9	231						9	231	---	---	---	---
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:333922_333923insC	ENST00000382291.3	+	4	498_499	c.258_259insC	c.(259-261)cccfs	p.P87fs	NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.P87fs|NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000608736.1_Intron	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	87						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GCTATGCAGTGCCCCCCAAGCT	0.644																																						ENST00000382291.3																			0				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8						c.(256-261)gtccccfs		neurensin 2																																				SO:0001589	frameshift_variant	80023					integral to membrane|plasma membrane|transport vesicle		g.chr20:333922_333923insC	AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"""chromosome 20 open reading frame 98"""	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.264dupC	20.37:g.333928_333928dupC	ENSP00000371728:p.Pro87fs					NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs	p.VP86fs	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN			4	498_499	+		all_cancers(10;0.0834)	86					A8K3B2|Q6FII5|Q9NUD3	Frame_Shift_Ins	INS	ENST00000382291.3	37	c.258_259insC	CCDS12996.1																																																																																				0.644	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077446.1	NM_024958		16	555						16	555	---	---	---	---
SMOX	54498	broad.mit.edu	37	20	4163027	4163028	+	Frame_Shift_Ins	INS	-	-	G	rs145014650|rs6084654		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:4163027_4163028insG	ENST00000305958.4	+	5	1126_1127	c.901_902insG	c.(901-903)cggfs	p.R301fs	SMOX_ENST00000278795.3_Intron|SMOX_ENST00000339123.6_Intron|SMOX_ENST00000379460.2_Frame_Shift_Ins_p.R301fs|SMOX_ENST00000346595.2_Intron	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	301			R -> P (in dbSNP:rs6084654).		cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)	p.R301W(1)		breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGAGGAGCCCCGGGGGGGCAGG	0.673																																						ENST00000305958.4																			1	Substitution - Missense(1)	p.R301W(1)	endometrium(1)	breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26						c.(901-903)gggfs		spermine oxidase	Spermine(DB00127)																																			SO:0001589	frameshift_variant	54498				polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	g.chr20:4163027_4163028insG	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.908dupG	20.37:g.4163034_4163034dupG	ENSP00000307252:p.Arg301fs					SMOX_ENST00000379460.2_Frame_Shift_Ins_p.G301fs|SMOX_ENST00000278795.3_Intron|SMOX_ENST00000339123.6_Intron|SMOX_ENST00000346595.2_Intron	p.G301fs	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN			5	1126_1127	+			301		R -> P (in dbSNP:rs6084654).			A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Frame_Shift_Ins	INS	ENST00000305958.4	37	c.901_902insG	CCDS13075.1																																																																																				0.673	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		8	106						8	106	---	---	---	---
DUSP15	128853	broad.mit.edu	37	20	30451726	30451727	+	Frame_Shift_Ins	INS	-	-	C	rs201744217		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:30451726_30451727insC	ENST00000278979.3	-	5	313_314	c.237_238insG	c.(235-240)gggaacfs	p.N80fs	DUSP15_ENST00000493115.1_5'UTR|DUSP15_ENST00000375966.4_Frame_Shift_Ins_p.N80fs|DUSP15_ENST00000398084.2_5'UTR|DUSP15_ENST00000398083.1_5'UTR|DUSP15_ENST00000339738.5_Frame_Shift_Ins_p.N83fs|DUSP15_ENST00000486996.1_5'UTR			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	80	Tyrosine-protein phosphatase.				positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACAAGGCAGTTCCCCCCATTAA	0.55																																						ENST00000278979.3																			0				large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7						c.(235-240)ggactgfs		dual specificity phosphatase 15																																				SO:0001589	frameshift_variant	128853					cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr20:30451726_30451727insC		CCDS13193.1, CCDS42862.1	20q11.21	2011-06-09	2005-03-09		ENSG00000149599	ENSG00000149599		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16236	protein-coding gene	gene with protein product			"""dual specificity phosphatase-like 15"""			15138252	Standard	NM_080611		Approved	bA243J16.6, VHY	uc002wwx.1	Q9H1R2	OTTHUMG00000032182	ENST00000278979.3:c.238dupG	20.37:g.30451732_30451732dupC	ENSP00000278979:p.Asn80fs					DUSP15_ENST00000339738.5_Frame_Shift_Ins_p.L83fs|DUSP15_ENST00000398083.1_5'UTR|DUSP15_ENST00000493115.1_5'UTR|DUSP15_ENST00000486996.1_5'UTR|DUSP15_ENST00000398084.2_5'UTR|DUSP15_ENST00000375966.4_Frame_Shift_Ins_p.L80fs	p.L80fs			Q9H1R2	DUS15_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		5	313_314	-			80			Tyrosine-protein phosphatase.		A6NH79|A8MVC8|Q5QP62|Q5QP63|Q5QP65|Q6PGN7|Q8N826|Q9BX24	Frame_Shift_Ins	INS	ENST00000278979.3	37	c.237_238insG																																																																																					0.550	DUSP15-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078555.3	NM_080611		8	581						8	581	---	---	---	---
TM9SF4	9777	broad.mit.edu	37	20	30737490	30737491	+	Frame_Shift_Ins	INS	-	-	C	rs199845790		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:30737490_30737491insC	ENST00000398022.2	+	10	1243_1244	c.1008_1009insC	c.(1009-1011)cccfs	p.P337fs	TM9SF4_ENST00000217315.5_Frame_Shift_Ins_p.P320fs	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	337						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACGTCTTCAGGCCCCCCCAGTA	0.604																																						ENST00000217315.5																			0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(955-960)agccccfs		transmembrane 9 superfamily protein member 4																																				SO:0001589	frameshift_variant	9777					integral to membrane		g.chr20:30737490_30737491insC	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1015dupC	20.37:g.30737497_30737497dupC	ENSP00000381104:p.Pro337fs					TM9SF4_ENST00000398022.2_Frame_Shift_Ins_p.SP336fs	p.SP319fs			Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		10	1297_1298	+			336					B0QYT7|Q9NUA3	Frame_Shift_Ins	INS	ENST00000398022.2	37	c.957_958insC	CCDS13196.2																																																																																				0.604	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		7	141						7	141	---	---	---	---
DNMT3B	1789	broad.mit.edu	37	20	31384650	31384651	+	Frame_Shift_Ins	INS	-	-	G	rs200912653		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:31384650_31384651insG	ENST00000328111.2	+	13	1673_1674	c.1352_1353insG	c.(1351-1356)gaggggfs	p.EG451fs	DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.EG443fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.EG431fs|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.EG389fs|DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.EG431fs|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.EG355fs|DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.EG431fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	451	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTCTTTGAGGGGGGGCTCT	0.559																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1351-1353)gggfs		DNA (cytosine-5-)-methyltransferase 3 beta																																				SO:0001589	frameshift_variant	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31384650_31384651insG		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1359dupG	20.37:g.31384657_31384657dupG	ENSP00000328547:p.Glu451fs					DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.G443fs|DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.G389fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.G355fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.G431fs	p.G451fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			13	1673_1674	+			451			ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Frame_Shift_Ins	INS	ENST00000328111.2	37	c.1352_1353insG	CCDS13205.1																																																																																				0.559	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		12	254						12	254	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33337505	33337506	+	Frame_Shift_Ins	INS	-	-	G	rs61754975		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:33337505_33337506insG	ENST00000374796.2	-	10	5062_5063	c.2492_2493insC	c.(2491-2493)cctfs	p.P831fs	NCOA6_ENST00000359003.2_Frame_Shift_Ins_p.P831fs			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	831	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CCTGCACATGAGGGGGGACCAT	0.5																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(2491-2493)ccafs		nuclear receptor coactivator 6																																				SO:0001589	frameshift_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33337505_33337506insG	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.2493dupC	20.37:g.33337511_33337511dupG	ENSP00000363929:p.Pro831fs					NCOA6_ENST00000359003.2_Frame_Shift_Ins_p.P831fs	p.P831fs			Q14686	NCOA6_HUMAN			10	5062_5063	-			831			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Frame_Shift_Ins	INS	ENST00000374796.2	37	c.2492_2493insC	CCDS13241.1																																																																																				0.500	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		7	993						7	993	---	---	---	---
RPN2	6185	broad.mit.edu	37	20	35860725	35860726	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:35860725_35860726insC	ENST00000237530.6	+	14	1919_1920	c.1608_1609insC	c.(1609-1611)cccfs	p.P537fs	RPN2_ENST00000373622.5_Frame_Shift_Ins_p.P505fs|RPN2_ENST00000470352.1_Intron	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	537					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CTGAGAAGAGGCCCCCCACCGT	0.574																																						ENST00000237530.6																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24						c.(1606-1611)agccccfs		ribophorin II																																				SO:0001589	frameshift_variant	6185				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr20:35860725_35860726insC	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.1614dupC	20.37:g.35860731_35860731dupC	ENSP00000237530:p.Pro537fs					RPN2_ENST00000373622.5_Frame_Shift_Ins_p.SP504fs|RPN2_ENST00000470352.1_Intron	p.SP536fs	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN			14	1919_1920	+		Myeloproliferative disorder(115;0.00878)	536					Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Frame_Shift_Ins	INS	ENST00000237530.6	37	c.1608_1609insC	CCDS13291.1																																																																																				0.574	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		15	911						15	911	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)accfs	p.T379fs	RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.T157fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.T379fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.T379fs|MIR548O2_ENST00000583129.1_RNA|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.T379fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446																																						ENST00000262879.6																			1	Insertion - Frameshift(1)	p.H382fs*2(1)	lung(1)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(1135-1137)cccfs		Ral GTPase activating protein, beta subunit (non-catalytic)																																				SO:0001589	frameshift_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37146232_37146233insC	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1142dupC	20.37:g.37146239_37146239dupC	ENSP00000262879:p.Thr379fs					RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs	p.P379fs			Q86X10	RLGPB_HUMAN			8	1419_1420	+			379					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Frame_Shift_Ins	INS	ENST00000262879.6	37	c.1135_1136insC	CCDS13305.1																																																																																				0.446	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		16	262						16	262	---	---	---	---
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G	rs559154076	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)cccaatfs	p.N103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.				negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)	extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535																																					GBM(64;162 1089 31780 33427 34538)	ENST00000338380.2																			0				lung(3)|ovary(1)	4						c.(304-309)ccatttfs		secretory leukocyte peptidase inhibitor																																				SO:0001589	frameshift_variant	6590					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:43881730_43881731insG	X04502	CCDS13347.1	20q13.12	2013-01-21	2005-08-17		ENSG00000124107	ENSG00000124107		"""WAP four-disulfide core domain containing"""	11092	protein-coding gene	gene with protein product	"""antileukoproteinase"""	107285	"""secretory leukocyte protease inhibitor (antileukoproteinase)"""			3640338, 12206714	Standard	NM_003064		Approved	HUSI-I, ALK1, ALP, BLPI, HUSI, WAP4, WFDC4	uc002xnm.1	P03973	OTTHUMG00000033075	ENST00000338380.2:c.307dupC	20.37:g.43881737_43881737dupG	ENSP00000342082:p.Asn103fs						p.F103fs	NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN			3	326_327	-		Myeloproliferative disorder(115;0.0122)	103			Elastase inhibitory domain.|WAP 2.		B2R5H8|P07757	Frame_Shift_Ins	INS	ENST00000338380.2	37	c.306_307insC	CCDS13347.1																																																																																				0.535	SLPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080494.3			17	448						17	448	---	---	---	---
RBPJL	11317	broad.mit.edu	37	20	43940237	43940238	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:43940237_43940238insC	ENST00000343694.3	+	4	338_339	c.266_267insC	c.(265-270)tgccccfs	p.CP89fs	RBPJL_ENST00000372743.1_Frame_Shift_Ins_p.CP89fs|RBPJL_ENST00000372741.3_Frame_Shift_Ins_p.CP89fs	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	89					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				AGGTTCTTCTGCCCCCCGCCCT	0.604											OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000343694.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(265-267)tccfs		recombination signal binding protein for immunoglobulin kappa J region-like																																				SO:0001589	frameshift_variant	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43940237_43940238insC	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.272dupC	20.37:g.43940243_43940243dupC	ENSP00000341243:p.Cys89fs		OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	920	RBPJL_ENST00000372743.1_Frame_Shift_Ins_p.S89fs|RBPJL_ENST00000372741.3_Frame_Shift_Ins_p.S89fs	p.S89fs	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN			4	338_339	+		Myeloproliferative disorder(115;0.0122)	89					O95723|Q5QPU9|Q5QPV0|Q9ULV9	Frame_Shift_Ins	INS	ENST00000343694.3	37	c.266_267insC	CCDS13349.1																																																																																				0.604	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		7	244						7	244	---	---	---	---
PIGT	51604	broad.mit.edu	37	20	44050025	44050026	+	Frame_Shift_Ins	INS	-	-	C	rs530768714|rs569625672		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:44050025_44050026insC	ENST00000279036.6	+	9	1116_1117	c.1036_1037insC	c.(1036-1038)gccfs	p.A346fs	PIGT_ENST00000545755.1_Frame_Shift_Ins_p.A84fs|PIGT_ENST00000543458.2_Frame_Shift_Ins_p.A290fs|PIGT_ENST00000535404.1_Frame_Shift_Ins_p.A191fs|PIGT_ENST00000372689.5_Intron|PIGT_ENST00000341555.5_Frame_Shift_Ins_p.A152fs|PIGT_ENST00000279035.9_Frame_Shift_Ins_p.A244fs	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	346					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TTACACAGAGGCCCCCCCAGTG	0.574																																						ENST00000279036.6																			0				breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22						c.(1036-1038)cccfs		phosphatidylinositol glycan anchor biosynthesis, class T																																				SO:0001589	frameshift_variant	51604				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr20:44050025_44050026insC		CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1043dupC	20.37:g.44050032_44050032dupC	ENSP00000279036:p.Ala346fs					PIGT_ENST00000341555.5_Frame_Shift_Ins_p.P152fs|PIGT_ENST00000372689.5_Intron|PIGT_ENST00000279035.9_Frame_Shift_Ins_p.P244fs|PIGT_ENST00000535404.1_Frame_Shift_Ins_p.P191fs|PIGT_ENST00000543458.2_Frame_Shift_Ins_p.P290fs|PIGT_ENST00000545755.1_Frame_Shift_Ins_p.P84fs	p.P346fs	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN			9	1116_1117	+		Myeloproliferative disorder(115;0.0122)	346					B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Frame_Shift_Ins	INS	ENST00000279036.6	37	c.1036_1037insC	CCDS13353.1																																																																																				0.574	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		7	151						7	151	---	---	---	---
SLC12A5	57468	broad.mit.edu	37	20	44680421	44680422	+	Frame_Shift_Ins	INS	-	-	G	rs138144890		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:44680421_44680422insG	ENST00000454036.2	+	18	2407_2408	c.2358_2359insG	c.(2359-2361)gggfs	p.G787fs	SLC12A5_ENST00000243964.3_Frame_Shift_Ins_p.G764fs	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	787					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGGGGGCCTCGGGGGGCTGCA	0.599																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(2356-2361)ctggggfs		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)																																			SO:0001589	frameshift_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44680421_44680422insG	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2364dupG	20.37:g.44680427_44680427dupG	ENSP00000387694:p.Gly787fs					SLC12A5_ENST00000243964.3_Frame_Shift_Ins_p.LG763fs	p.LG786fs	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			18	2434_2435	+		Myeloproliferative disorder(115;0.0122)	786					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Frame_Shift_Ins	INS	ENST00000454036.2	37	c.2358_2359insG	CCDS46610.1																																																																																				0.599	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			12	373						12	373	---	---	---	---
SLC13A3	64849	broad.mit.edu	37	20	45194969	45194970	+	Frame_Shift_Ins	INS	-	-	G	rs149123701	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:45194969_45194970insG	ENST00000279027.4	-	11	1410_1411	c.1392_1393insC	c.(1390-1395)cccgccfs	p.A465fs	SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.A383fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.A50fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.A383fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.A415fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.A418fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.A418fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	465					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)	p.P464P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACAGCCAGGGCGGGGGGCACAT	0.604																																						ENST00000279027.4																			1	Substitution - coding silent(1)	p.P464P(1)	lung(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1390-1395)ccccctfs		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)																																			SO:0001589	frameshift_variant	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45194969_45194970insG	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1393dupC	20.37:g.45194975_45194975dupG	ENSP00000279027:p.Ala465fs					SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.PP49fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.PP414fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.PP382fs	p.PP464fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN			11	1410_1411	-		Myeloproliferative disorder(115;0.0122)	464					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Frame_Shift_Ins	INS	ENST00000279027.4	37	c.1392_1393insC	CCDS13400.1																																																																																				0.604	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			9	1084						9	1084	---	---	---	---
DPM1	8813	broad.mit.edu	37	20	49576707	49576708	+	5'Flank	INS	-	-	G	rs142791519		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:49576707_49576708insG	ENST00000371588.5	-	0	0				MOCS3_ENST00000244051.1_Frame_Shift_Ins_p.VG443fs|DPM1_ENST00000371583.5_5'Flank|DPM1_ENST00000371582.4_5'Flank|DPM1_ENST00000466152.1_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						CGGGATGTTGTGGGGGGCCTCA	0.475																																						ENST00000244051.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						c.(1327-1329)gggfs		molybdenum cofactor synthesis 3																																				SO:0001631	upstream_gene_variant	27304				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	g.chr20:49576707_49576708insG	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49576713_49576713dupG	Exception_encountered						p.G443fs	NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN			1	1345_1346	+			443			Rhodanese.		O15157|Q6IB78|Q96HK0	Frame_Shift_Ins	INS	ENST00000371588.5	37	c.1328_1329insG	CCDS13434.1																																																																																				0.475	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		8	901						8	901	---	---	---	---
ATP9A	10079	broad.mit.edu	37	20	50305661	50305662	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:50305661_50305662insG	ENST00000338821.5	-	9	1004_1005	c.740_741insC	c.(739-741)ccgfs	p.P247fs	ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	247					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCTCGCTGATCGGGGGGTCGCT	0.564																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(739-741)catfs		ATPase, class II, type 9A																																				SO:0001589	frameshift_variant	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50305661_50305662insG	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.741dupC	20.37:g.50305667_50305667dupG	ENSP00000342481:p.Pro247fs					ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	p.H247fs	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			9	1004_1005	-			247					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Frame_Shift_Ins	INS	ENST00000338821.5	37	c.740_741insC	CCDS33489.1																																																																																				0.564	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		10	878						10	878	---	---	---	---
ZFP64	55734	broad.mit.edu	37	20	50769075	50769076	+	Frame_Shift_Ins	INS	-	-	G	rs535504707		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:50769075_50769076insG	ENST00000216923.4	-	6	2004_2005	c.1655_1656insC	c.(1654-1656)cctfs	p.P552fs	ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371518.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	552					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGAGGACTGAGGGGGGGCGAT	0.673																																						ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1654-1656)ccafs		ZFP64 zinc finger protein			,,,	11,4249		0,11,2119					,,,	-3.3	0.0			34	3,8249		0,3,4123	no	intron,frameshift,frameshift,frameshift	ZFP64	NM_199427.2,NM_199426.1,NM_022088.4,NM_018197.2	,,,	0,14,6242	A1A1,A1R,RR		0.0364,0.2582,0.1119	,,,	,,,		14,12498				SO:0001589	frameshift_variant	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50769075_50769076insG	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1656dupC	20.37:g.50769082_50769082dupG	ENSP00000216923:p.Pro552fs					ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs	p.P552fs	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN			6	2004_2005	-			552					Q9NTS7|Q9NVH4	Frame_Shift_Ins	INS	ENST00000216923.4	37	c.1655_1656insC	CCDS13440.1																																																																																				0.673	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		7	177						7	177	---	---	---	---
C20orf85	128602	broad.mit.edu	37	20	56735726	56735727	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:56735726_56735727insC	ENST00000371168.3	+	4	323_324	c.262_263insC	c.(262-264)tccfs	p.S88fs		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	88										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			GGTCTTTCCATCCCCCCCAGTC	0.579																																						ENST00000371168.3																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13						c.(262-264)cccfs		chromosome 20 open reading frame 85				5,4259		0,5,2127						5.1	0.2		dbSNP_126	44	5,8249		0,5,4122	no	frameshift	C20orf85	NM_178456.2		0,10,6249	A1A1,A1R,RR		0.0606,0.1173,0.0799				10,12508				SO:0001589	frameshift_variant	128602							g.chr20:56735726_56735727insC	AL354776	CCDS13465.1	20q13.32	2012-10-29			ENSG00000124237	ENSG00000124237			16216	protein-coding gene	gene with protein product	"""Low in Lung Cancer 1"""						Standard	NM_178456		Approved	bA196N14.1, LLC1	uc002xyv.3	Q9H1P6	OTTHUMG00000032836	ENST00000371168.3:c.269dupC	20.37:g.56735733_56735733dupC	ENSP00000360210:p.Ser88fs						p.P88fs	NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)		4	323_324	+	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		88						Frame_Shift_Ins	INS	ENST00000371168.3	37	c.262_263insC	CCDS13465.1																																																																																				0.579	C20orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079866.2	NM_178456		7	199						7	199	---	---	---	---
TAF4	6874	broad.mit.edu	37	20	60574110	60574111	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:60574110_60574111insA	ENST00000252996.4	-	12	2840_2841	c.2841_2842insT	c.(2839-2844)tttgaafs	p.E948fs		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	948					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TCAAGCTGTTCAAAAAACTTGA	0.505																																						ENST00000252996.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2839-2844)ttaacafs		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa																																				SO:0001589	frameshift_variant	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60574110_60574111insA	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2842dupT	20.37:g.60574116_60574116dupA	ENSP00000252996:p.Glu948fs						p.LT947fs	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		12	2840_2841	-	Breast(26;1e-08)		947					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Frame_Shift_Ins	INS	ENST00000252996.4	37	c.2841_2842insT	CCDS33500.1																																																																																				0.505	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		8	1007						8	1007	---	---	---	---
OSBPL2	9885	broad.mit.edu	37	20	60854257	60854258	+	Frame_Shift_Ins	INS	-	-	C	rs79735057		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:60854257_60854258insC	ENST00000313733.3	+	7	738_739	c.536_537insC	c.(535-540)caccccfs	p.HP179fs	OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.HP87fs|OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.HP167fs	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	179					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GTCAGTCACCACCCCCCCATCA	0.465																																						ENST00000313733.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(535-537)cccfs		oxysterol binding protein-like 2			,	18,4246		0,18,2114					,	4.9	1.0			111	7,8247		0,7,4120	no	frameshift,frameshift	OSBPL2	NM_144498.1,NM_014835.2	,	0,25,6234	A1A1,A1R,RR		0.0848,0.4221,0.1997	,	,		25,12493				SO:0001589	frameshift_variant	9885				lipid transport		lipid binding	g.chr20:60854257_60854258insC	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.543dupC	20.37:g.60854264_60854264dupC	ENSP00000316649:p.His179fs					OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.P167fs|OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.P87fs	p.P179fs	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		7	738_739	+	Breast(26;7.76e-09)		179					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Frame_Shift_Ins	INS	ENST00000313733.3	37	c.536_537insC	CCDS13495.1																																																																																				0.465	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		14	267						14	267	---	---	---	---
TIAM1	7074	broad.mit.edu	37	21	32493036	32493037	+	Frame_Shift_Ins	INS	-	-	G	rs143258724		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr21:32493036_32493037insG	ENST00000286827.3	-	29	4896_4897	c.4425_4426insC	c.(4423-4428)cccggtfs	p.G1476fs	TIAM1_ENST00000541036.1_Frame_Shift_Ins_p.G1416fs	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1476					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCCCCACCACCGGGGGGCTGCT	0.569																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(4423-4428)ccgtggfs		T-cell lymphoma invasion and metastasis 1																																				SO:0001589	frameshift_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32493036_32493037insG		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.4426dupC	21.37:g.32493042_32493042dupG	ENSP00000286827:p.Gly1476fs					TIAM1_ENST00000541036.1_Frame_Shift_Ins_p.W1416fs	p.W1476fs	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			29	4896_4897	-			1476					B7ZLR6|F5GZ53|Q17RT7	Frame_Shift_Ins	INS	ENST00000286827.3	37	c.4425_4426insC	CCDS13609.1																																																																																				0.569	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		7	221						7	221	---	---	---	---
ITSN1	6453	broad.mit.edu	37	21	35122566	35122567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr21:35122566_35122567insC	ENST00000381318.3	+	6	753_754	c.465_466insC	c.(466-468)cccfs	p.P156fs	ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.P156fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.P119fs|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.P156fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	156					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAGCAGCTGTGCCCCCCCTGGC	0.525																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(463-468)gtccccfs		intersectin 1 (SH3 domain protein)																																				SO:0001589	frameshift_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35122566_35122567insC	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.472dupC	21.37:g.35122573_35122573dupC	ENSP00000370719:p.Pro156fs					ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.VP155fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.VP118fs	p.VP155fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			6	753_754	+			155					A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Frame_Shift_Ins	INS	ENST00000381318.3	37	c.465_466insC	CCDS33545.1																																																																																				0.525	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		10	111						10	111	---	---	---	---
DOPEY2	9980	broad.mit.edu	37	21	37603298	37603299	+	Frame_Shift_Ins	INS	-	-	G	rs557055679	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr21:37603298_37603299insG	ENST00000399151.3	+	14	2301_2302	c.2216_2217insG	c.(2215-2220)ctggggfs	p.LG739fs		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	739					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GTCATTGACCTGGGGGGTTCCA	0.584																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2215-2217)cggfs		dopey family member 2				0,4264		0,0,2132						3.0	0.1			63	1,8253		0,1,4126	no	frameshift	DOPEY2	NM_005128.2		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				SO:0001589	frameshift_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37603298_37603299insG	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.2222dupG	21.37:g.37603304_37603304dupG	ENSP00000382104:p.Leu739fs						p.R739fs	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			14	2301_2302	+			739					D3DSG5|Q6PJQ7|Q9UEZ3	Frame_Shift_Ins	INS	ENST00000399151.3	37	c.2216_2217insG	CCDS13643.1																																																																																				0.584	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		11	601						11	601	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)cccgaafs	p.E1093fs		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1093	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			1	Substitution - Missense(1)	p.E1093K(1)	skin(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(3274-3279)ccaaaafs		Down syndrome cell adhesion molecule																																				SO:0001589	frameshift_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41514614_41514615insG	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3277dupC	21.37:g.41514621_41514621dupG	ENSP00000383303:p.Glu1093fs						p.PK1092fs	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			18	3753_3754	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1092			Fibronectin type-III 3.		O60468	Frame_Shift_Ins	INS	ENST00000400454.1	37	c.3276_3277insC	CCDS42929.1																																																																																				0.406	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		19	476						19	476	---	---	---	---
MCM3AP	8888	broad.mit.edu	37	21	47666704	47666705	+	Frame_Shift_Ins	INS	-	-	G	rs200634923	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr21:47666704_47666705insG	ENST00000397708.1	-	22	4640_4641	c.4386_4387insC	c.(4384-4389)cccaaafs	p.K1463fs	MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|AP001469.7_ENST00000444966.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.K1463fs|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP_ENST00000467026.1_5'UTR			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1463					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTCTTCATTTTGGGGGGAAGCA	0.609																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(4384-4389)ccaaatfs		minichromosome maintenance complex component 3 associated protein																																				SO:0001589	frameshift_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47666704_47666705insG	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4387dupC	21.37:g.47666710_47666710dupG	ENSP00000380820:p.Lys1463fs					MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.N1463fs|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA	p.N1463fs			O60318	MCM3A_HUMAN			22	4640_4641	-	Breast(49;0.112)		1463					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Frame_Shift_Ins	INS	ENST00000397708.1	37	c.4386_4387insC	CCDS13734.1																																																																																				0.609	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		15	809						15	809	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	18022285	18022286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:18022285_18022286insC	ENST00000400585.2	+	16	2402_2403	c.1964_1965insC	c.(1963-1968)gtccccfs	p.VP655fs	CECR2_ENST00000262608.8_Frame_Shift_Ins_p.VP797fs|CECR2_ENST00000400573.5_Frame_Shift_Ins_p.VP796fs			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	838					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGACCACCTGTCCCCCCCAACC	0.609																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2389-2391)gccfs		cat eye syndrome chromosome region, candidate 2																																				SO:0001589	frameshift_variant	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022285_18022286insC	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1971dupC	22.37:g.18022292_18022292dupC	ENSP00000383428:p.Val655fs					CECR2_ENST00000400573.4_Frame_Shift_Ins_p.A796fs|CECR2_ENST00000400585.2_Frame_Shift_Ins_p.A655fs	p.A797fs	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2390_2391	+		all_epithelial(15;0.139)	838					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Frame_Shift_Ins	INS	ENST00000400585.2	37	c.2390_2391insC																																																																																					0.609	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		9	279						9	279	---	---	---	---
P2RX6P	440799	broad.mit.edu	37	22	21399220	21399221	+	5'Flank	INS	-	-	C	rs529641856|rs548950945	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:21399220_21399221insC	ENST00000342608.4	+	0	0				P2RX6P_ENST00000439119.1_RNA|AC002472.11_ENST00000450652.1_RNA|AC002472.13_ENST00000543388.1_5'Flank																lung(2)	2						TCTGCAGGGCGCCCCCCCACCA	0.599																																						ENST00000439119.1																			0																																																	SO:0001631	upstream_gene_variant	440799							g.chr22:21399220_21399221insC																													22.37:g.21399227_21399227dupC	Exception_encountered							NR_002829.1						0	51	-									RNA	INS	ENST00000342608.4	37																																																																																						0.599	AC002472.13-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				10	239						10	239	---	---	---	---
ZNF280A	129025	broad.mit.edu	37	22	22869526	22869527	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:22869526_22869527insG	ENST00000302097.3	-	2	680_681	c.428_429insC	c.(427-429)ccafs	p.P143fs	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	143					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ACTGAGTCCCTGGGGGGAGCGA	0.455																																						ENST00000302097.3																			0				endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18						c.(427-429)cggfs		zinc finger protein 280A																																				SO:0001589	frameshift_variant	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869526_22869527insG	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.429dupC	22.37:g.22869532_22869532dupG	ENSP00000302855:p.Pro143fs						p.R143fs	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	680_681	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	143						Frame_Shift_Ins	INS	ENST00000302097.3	37	c.428_429insC	CCDS13800.1																																																																																				0.455	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		8	331						8	331	---	---	---	---
CRYBB1	1414	broad.mit.edu	37	22	26995459	26995460	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:26995459_26995460insG	ENST00000215939.2	-	6	883_884	c.753_754insC	c.(751-756)cccaagfs	p.K252fs	TPST2_ENST00000403880.1_5'Flank	NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	252	C-terminal arm.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						TGGACTCACTTGGGGGGCTCTG	0.554																																						ENST00000215939.2																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						c.(751-756)ccagtgfs		crystallin, beta B1																																				SO:0001589	frameshift_variant	1414				visual perception		structural constituent of eye lens	g.chr22:26995459_26995460insG		CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.754dupC	22.37:g.26995465_26995465dupG	ENSP00000215939:p.Lys252fs						p.V252fs	NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN			6	883_884	-			252			C-terminal arm.			Frame_Shift_Ins	INS	ENST00000215939.2	37	c.753_754insC	CCDS13840.1																																																																																				0.554	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887		8	295						8	295	---	---	---	---
THOC5	8563	broad.mit.edu	37	22	29925230	29925231	+	Splice_Site	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:29925230_29925231insG	ENST00000490103.1	-	9	970		c.e9-2		THOC5_ENST00000397873.2_Splice_Site|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Splice_Site|THOC5_ENST00000397872.1_Splice_Site	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5						blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACGTCTTATCTGGGGGGCAAGA	0.535																																						ENST00000490103.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.e9-2		THO complex 5			,,,	0,4264		0,0,2132					,,,	5.4	1.0			108	1,8253		0,1,4126	no	splice-3,splice-3,splice-3,splice-3	THOC5	NM_003678.4,NM_001002879.1,NM_001002878.1,NM_001002877.1	,,,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,,,	,,,		1,12517				SO:0001630	splice_region_variant	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29925230_29925231insG	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.848-2->C	22.37:g.29925236_29925236dupG						THOC5_ENST00000397871.1_Splice_Site|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397872.1_Splice_Site|THOC5_ENST00000397873.2_Splice_Site		NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN			9	970	-								O60839|Q9UPZ5	Splice_Site	INS	ENST00000490103.1	37		CCDS13859.1																																																																																				0.535	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678	Intron	10	854						10	854	---	---	---	---
BPIFC	254240	broad.mit.edu	37	22	32831828	32831829	+	Frame_Shift_Ins	INS	-	-	G	rs199560755	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:32831828_32831829insG	ENST00000397452.1	-	9	896_897	c.786_787insC	c.(784-789)cccttcfs	p.F263fs	BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000300399.3_Frame_Shift_Ins_p.F263fs|BPIFC_ENST00000432451.2_Frame_Shift_Ins_p.F77fs			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	263						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										ACTGGTGAGAAGGGGGGGTCGG	0.46														20	0.00399361	0.0008	0.0	5008	,	,		19618	0.0179		0.0	False		,,,				2504	0.001					ENST00000397452.1																			0											c.(784-789)cctctcfs		BPI fold containing family C				4,4260		0,4,2128						5.7	0.2			81	0,8254		0,0,4127	no	frameshift	BPIFC	NM_174932.2		0,4,6255	A1A1,A1R,RR		0.0,0.0938,0.032				4,12514				SO:0001589	frameshift_variant	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32831828_32831829insG	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.787dupC	22.37:g.32831835_32831835dupG	ENSP00000380594:p.Phe263fs					BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000432451.2_Frame_Shift_Ins_p.L77fs|BPIFC_ENST00000300399.3_Frame_Shift_Ins_p.L263fs	p.L263fs			Q8NFQ6	BPIL2_HUMAN			9	896_897	-			263					A2RRF1	Frame_Shift_Ins	INS	ENST00000397452.1	37	c.786_787insC	CCDS13906.1																																																																																				0.460	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		7	180						7	180	---	---	---	---
POLR2F	5435	broad.mit.edu	37	22	38363690	38363691	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:38363690_38363691insG	ENST00000442738.2	+	5	477_478	c.352_353insG	c.(352-354)tggfs	p.W118fs	POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000470701.1_Frame_Shift_Ins_p.W113fs|POLR2F_ENST00000405557.1_Intron	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F	118					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					CTATGAAGACTGGGGGGTGGAC	0.515																																						ENST00000442738.2																			0				breast(1)|urinary_tract(2)	3						c.(352-354)gggfs		polymerase (RNA) II (DNA directed) polypeptide F																																				SO:0001589	frameshift_variant	5435				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity	g.chr22:38363690_38363691insG		CCDS13963.1	22q13.1	2013-01-21			ENSG00000100142	ENSG00000100142		"""RNA polymerase subunits"""	9193	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 14.4 kda polypeptide"""	604414				8786150	Standard	XR_112241		Approved	RPB6, HRBP14.4	uc010gxi.3	P61218	OTTHUMG00000151160	ENST00000442738.2:c.358dupG	22.37:g.38363696_38363696dupG	ENSP00000403852:p.Trp118fs					POLR2F_ENST00000470701.1_Frame_Shift_Ins_p.G113fs|POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000484894.1_Intron	p.G118fs	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN			5	477_478	+	Melanoma(58;0.045)		118					P41584|Q6IAY3	Frame_Shift_Ins	INS	ENST00000442738.2	37	c.352_353insG	CCDS13963.1																																																																																				0.515	POLR2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321570.1	NM_021974		7	660						7	660	---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40681766	40681767	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:40681766_40681767insC	ENST00000454349.2	+	12	3911_3912	c.3700_3701insC	c.(3700-3702)tccfs	p.S1234fs	TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.S430fs|TNRC6B_ENST00000335727.9_Frame_Shift_Ins_p.S1124fs|TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.S430fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1234	Silencing domain; interaction with CNOT1 and PAN3.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						CCAGTTTATTTCCCCCCAGGTA	0.45																																						ENST00000454349.2																			0				breast(1)	1						c.(3700-3702)cccfs		trinucleotide repeat containing 6B																																				SO:0001589	frameshift_variant	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40681766_40681767insC	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.3706dupC	22.37:g.40681772_40681772dupC	ENSP00000401946:p.Ser1234fs					TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.P1124fs|TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.P430fs	p.P1234fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			12	3911_3912	+			1234					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Frame_Shift_Ins	INS	ENST00000454349.2	37	c.3700_3701insC	CCDS54533.1																																																																																				0.450	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				7	577						7	577	---	---	---	---
EP300	2033	broad.mit.edu	37	22	41574678	41574679	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:41574678_41574679insC	ENST00000263253.7	+	31	8182_8183	c.6963_6964insC	c.(6964-6966)cccfs	p.P2322fs	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2322					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CACAGTCCCAGCCCCCCCACTC	0.609			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(6961-6966)caccccfs		E1A binding protein p300																																				SO:0001589	frameshift_variant	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41574678_41574679insC	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6970dupC	22.37:g.41574685_41574685dupC	ENSP00000263253:p.Pro2322fs					RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	p.HP2321fs	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			31	8182_8183	+			2321					B1AKC2	Frame_Shift_Ins	INS	ENST00000263253.7	37	c.6963_6964insC	CCDS14010.1																																																																																				0.609	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		7	147						7	147	---	---	---	---
CYP2D6	1565	broad.mit.edu	37	22	42524213	42524214	+	Frame_Shift_Ins	INS	-	-	G	rs367543000|rs565013903	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:42524213_42524214insG	ENST00000360608.5	-	5	919_920	c.805_806insC	c.(805-807)cgafs	p.R269fs	CYP2D6_ENST00000389970.3_Frame_Shift_Ins_p.R269fs|NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000359033.4_Frame_Shift_Ins_p.R218fs|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	269					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	AGTCAGGTCTCGGGGGGGCTGG	0.629																																						ENST00000360608.5																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	GRCh37	CI994342	CYP2D6	I	rs72549352	c.(805-807)agafs		cytochrome P450, family 2, subfamily D, polypeptide 6																																				SO:0001589	frameshift_variant	1565						electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	g.chr22:42524213_42524214insG	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.806dupC	22.37:g.42524220_42524220dupG	ENSP00000353820:p.Arg269fs					NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000389970.3_Frame_Shift_Ins_p.R269fs|CYP2D6_ENST00000359033.4_Frame_Shift_Ins_p.R218fs|NDUFA6-AS1_ENST00000439129.1_RNA	p.R269fs	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN			5	919_920	-			269					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Frame_Shift_Ins	INS	ENST00000360608.5	37	c.805_806insC	CCDS46721.1																																																																																				0.629	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			7	71						7	71	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:42610947_42610948insG	ENST00000359486.3	-	1	500_501	c.364_365insC	c.(364-366)cagfs	p.Q122fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.Q122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGCTCCCCTGGGGGGGTCCA	0.564																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(364-366)gggfs		transcription factor 20 (AR1)																																				SO:0001589	frameshift_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610947_42610948insG	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.365dupC	22.37:g.42610954_42610954dupG	ENSP00000352463:p.Gln122fs					TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs	p.G122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	500_501	-			122	Q -> R (in Ref. 1).				A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Frame_Shift_Ins	INS	ENST00000359486.3	37	c.364_365insC	CCDS14033.1																																																																																				0.564	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		13	493						13	493	---	---	---	---
CERK	64781	broad.mit.edu	37	22	47086001	47086002	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:47086001_47086002insC	ENST00000216264.8	-	12	1540_1541	c.1428_1429insG	c.(1426-1431)gggaagfs	p.K477fs	CERK_ENST00000541677.1_Frame_Shift_Ins_p.K279fs|CERK_ENST00000471929.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	477					ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)	p.K477fs*>61(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AAGCGCTTCTTCCCCCCCTCCT	0.559																																						ENST00000216264.8																			1	Deletion - Frameshift(1)	p.K477fs*>61(1)	ovary(1)	cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20						c.(1426-1431)ggagaafs		ceramide kinase																																				SO:0001589	frameshift_variant	64781				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	g.chr22:47086001_47086002insC	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.1429dupG	22.37:g.47086008_47086008dupC	ENSP00000216264:p.Lys477fs					CERK_ENST00000471929.1_5'UTR|CERK_ENST00000541677.1_Frame_Shift_Ins_p.E279fs	p.E477fs	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	12	1540_1541	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	477					A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Frame_Shift_Ins	INS	ENST00000216264.8	37	c.1428_1429insG	CCDS14077.1																																																																																				0.559	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		14	499						14	499	---	---	---	---
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-93)caccccfs	p.HP30fs	TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.HP30fs	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	30							protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGTGCCCAGCACCCCCCCTTTG	0.569																																						ENST00000337137.4																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(88-90)cccfs		TBC1 domain family, member 22A																																				SO:0001589	frameshift_variant	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47188443_47188444insC	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.96dupC	22.37:g.47188450_47188450dupC	ENSP00000336724:p.His30fs					TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs|TBC1D22A_ENST00000406733.1_5'UTR	p.P30fs	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	2	255_256	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	30					B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Frame_Shift_Ins	INS	ENST00000337137.4	37	c.89_90insC	CCDS14078.1																																																																																				0.569	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		21	511						21	511	---	---	---	---
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	RNA	INS	-	-	G	rs41305745		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:48159107_48159108insG	ENST00000608568.1	-	0	580					NR_073393.1		Q7RTT3	SSX9_HUMAN	synovial sarcoma, X breakpoint 9						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTGGTTTTCCCGGGGGGCACAG	0.49																																						ENST00000376909.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						c.(424-426)cggfs																																								280660							g.chrX:48159107_48159108insG	BK000689		Xp11.23	2013-01-16			ENSG00000204648	ENSG00000204648			19655	other	unknown		300544				12216073	Standard	NR_073393		Approved		uc031tjk.1	Q7RTT3	OTTHUMG00000021490		X.37:g.48159113_48159113dupG						SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs	p.R142fs							6	487_488	-									Frame_Shift_Ins	INS	ENST00000608568.1	37	c.425_426insC																																																																																					0.490	SSX9-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000472372.1	NR_073393		8	274						8	274	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:48207024_48207025insC	ENST00000298396.2	-	7	533_534	c.481_482insG	c.(481-483)gaafs	p.E161fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.E73fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						CCAGGCATGTTCCCCCCTTTTG	0.48																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			0				endometrium(3)|large_intestine(1)|lung(9)	13						c.(481-483)acafs		synovial sarcoma, X breakpoint 3																																				SO:0001589	frameshift_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48207024_48207025insC	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.482dupG	X.37:g.48207030_48207030dupC	ENSP00000298396:p.Glu161fs					SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs	p.T161fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN			7	533_534	-			161					O60223|Q5JQZ3|Q9BRW7	Frame_Shift_Ins	INS	ENST00000298396.2	37	c.481_482insG	CCDS14291.1																																																																																				0.480	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		14	2126						14	2126	---	---	---	---
TFE3	7030	broad.mit.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:48887951_48887952insC	ENST00000315869.7	-	10	1704_1705	c.1445_1446insG	c.(1444-1446)ggafs	p.G482fs	TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	ENST00000315869.7				Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""		"""papillary renal, alveolar soft part sarcoma, renal"""	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	0				central_nervous_system(1)	1						c.(1444-1446)gccfs		transcription factor binding to IGHM enhancer 3																																				SO:0001589	frameshift_variant	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48887951_48887952insC	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1446dupG	X.37:g.48887959_48887959dupC	ENSP00000314129:p.Gly482fs					TFE3_ENST00000493583.1_5'UTR	p.A482fs	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN			10	1704_1705	-			482					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Frame_Shift_Ins	INS	ENST00000315869.7	37	c.1445_1446insG	CCDS14315.3																																																																																				0.649	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		41	472						41	472	---	---	---	---
RAB40AL	282808	broad.mit.edu	37	X	102192383	102192384	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:102192383_102192384insG	ENST00000218249.5	+	1	184_185	c.137_138insG	c.(136-141)ctggggfs	p.LG46fs	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	46					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						TACAGTCACCTGGGGGGAATCG	0.599																																						ENST00000218249.5																			0				endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						c.(136-138)cggfs		RAB40A, member RAS oncogene family-like																																				SO:0001589	frameshift_variant	282808				protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding	g.chrX:102192383_102192384insG	BC101169	CCDS35353.1	Xq22.2	2008-02-05			ENSG00000102128	ENSG00000102128			25410	protein-coding gene	gene with protein product	"""Ras like GTPase"""	300405					Standard	NM_001031834		Approved	RAR2, RLGP	uc004ejs.3	P0C0E4	OTTHUMG00000022084	ENST00000218249.5:c.143dupG	X.37:g.102192389_102192389dupG	ENSP00000218249:p.Leu46fs						p.R46fs	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN			1	184_185	+			46					Q495H3	Frame_Shift_Ins	INS	ENST00000218249.5	37	c.137_138insG	CCDS35353.1																																																																																				0.599	RAB40AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057679.1	NM_001031834		7	230						7	230	---	---	---	---
DCX	1641	broad.mit.edu	37	X	110644444	110644445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:110644444_110644445insG	ENST00000338081.3	-	3	892_893	c.721_722insC	c.(721-723)cagfs	p.Q241fs	DCX_ENST00000356915.2_Frame_Shift_Ins_p.Q160fs|DCX_ENST00000488120.1_Frame_Shift_Ins_p.Q160fs|DCX_ENST00000371993.2_Frame_Shift_Ins_p.Q160fs|DCX_ENST00000356220.3_Frame_Shift_Ins_p.Q160fs|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	241					axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AGCCAAGGACTGGGGGGCTTTC	0.51																																						ENST00000338081.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						c.(721-723)gtcfs		doublecortin																																				SO:0001589	frameshift_variant	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110644444_110644445insG	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.722dupC	X.37:g.110644450_110644450dupG	ENSP00000337697:p.Gln241fs					DCX_ENST00000371993.2_Frame_Shift_Ins_p.V160fs|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356220.3_Frame_Shift_Ins_p.V160fs|DCX_ENST00000488120.1_Frame_Shift_Ins_p.V160fs|DCX_ENST00000356915.2_Frame_Shift_Ins_p.V160fs	p.V241fs	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN			3	892_893	-			241					A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Frame_Shift_Ins	INS	ENST00000338081.3	37	c.721_722insC	CCDS14556.1																																																																																				0.510	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		10	437						10	437	---	---	---	---
ZCCHC12	170261	broad.mit.edu	37	X	117960135	117960136	+	Frame_Shift_Ins	INS	-	-	C	rs186832346		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:117960135_117960136insC	ENST00000310164.2	+	4	1435_1436	c.928_929insC	c.(928-930)tccfs	p.S310fs		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	310					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GGTCATTGATTCCCCCCACAAT	0.564																																						ENST00000310164.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(928-930)cccfs		zinc finger, CCHC domain containing 12																																				SO:0001589	frameshift_variant	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117960135_117960136insC	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.934dupC	X.37:g.117960141_117960141dupC	ENSP00000308921:p.Ser310fs						p.P310fs	NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN			4	1435_1436	+			310					B3KV48|Q6PID5|Q8N1C1	Frame_Shift_Ins	INS	ENST00000310164.2	37	c.928_929insC	CCDS14574.1																																																																																				0.564	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		10	379						10	379	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123514784	123514785	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:123514784_123514785insC	ENST00000371130.3	-	31	7842_7843	c.7779_7780insG	c.(7777-7782)gggaggfs	p.R2594fs	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Frame_Shift_Ins_p.R2601fs	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2594					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R2596fs*15(1)									AGAATCCGCCTCCCCCCAGTGT	0.5																																						ENST00000422452.2																			1	Deletion - Frameshift(1)	p.R2596fs*15(1)	ovary(1)								c.(7798-7803)ggggcgfs		teneurin transmembrane protein 1																																				SO:0001589	frameshift_variant	10178							g.chrX:123514784_123514785insC	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7780dupG	X.37:g.123514790_123514790dupC	ENSP00000360171:p.Arg2594fs					STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Frame_Shift_Ins_p.A2594fs	p.A2601fs	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					32	7863_7864	-								B2RTR5|Q5JZ17	Frame_Shift_Ins	INS	ENST00000371130.3	37	c.7800_7801insG	CCDS14609.1																																																																																				0.500	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		7	155						7	155	---	---	---	---
ZNF449	203523	broad.mit.edu	37	X	134494267	134494268	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:134494267_134494268insC	ENST00000339249.4	+	5	963_964	c.823_824insC	c.(823-825)accfs	p.T275fs		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	275					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCAATGGGAAACCCCCCCAGAG	0.436																																						ENST00000339249.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23						c.(823-825)cccfs		zinc finger protein 449																																				SO:0001589	frameshift_variant	203523				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134494267_134494268insC	AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.830dupC	X.37:g.134494274_134494274dupC	ENSP00000339585:p.Thr275fs						p.P275fs	NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN			5	963_964	+	Acute lymphoblastic leukemia(192;6.56e-05)		275					Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Frame_Shift_Ins	INS	ENST00000339249.4	37	c.823_824insC	CCDS14649.1																																																																																				0.436	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		9	111						9	111	---	---	---	---
USP24	23358	broad.mit.edu	37	1	55551626	55551626	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:55551626delA	ENST00000294383.6	-	56	6753	c.6754delT	c.(6754-6756)tatfs	p.Y2252fs	USP24_ENST00000407756.1_Frame_Shift_Del_p.Y2092fs	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2252					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTATCCTGATAAAACAAGGCA	0.378																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(6754-6756)atfs		ubiquitin specific peptidase 24							130.0	120.0	123.0					1																	55551626		1847	4103	5950	SO:0001589	frameshift_variant	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55551626delA	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.6754delT	1.37:g.55551626delA	ENSP00000294383:p.Tyr2252fs					USP24_ENST00000407756.1_Frame_Shift_Del_p.Y2092fs	p.Y2252fs	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			56	6753	-			2252					Q6ZSY2|Q8N2Y4|Q9NXD1	Frame_Shift_Del	DEL	ENST00000294383.6	37	c.6754delT	CCDS44154.2																																																																																				0.378	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			17	91						17	91	---	---	---	---
SLC12A8	84561	broad.mit.edu	37	3	124810981	124810982	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:124810981_124810982insT	ENST00000393469.4	-	10	1815_1816	c.1766_1767insA	c.(1765-1767)tatfs	p.Y589fs	SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000430155.2_Frame_Shift_Ins_p.Y390fs|SLC12A8_ENST00000423114.2_Frame_Shift_Ins_p.Y618fs|SLC12A8_ENST00000469902.1_Frame_Shift_Ins_p.Y589fs	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	589					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						ACATGTGGGTATAGAAAGAAGT	0.45																																						ENST00000423114.2																			0				endometrium(2)|kidney(2)|lung(12)	16						c.(1852-1854)tacfs		solute carrier family 12, member 8																																				SO:0001589	frameshift_variant	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124810981_124810982insT		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.1767dupA	3.37:g.124810982_124810982dupT	ENSP00000377112:p.Tyr589fs					SLC12A8_ENST00000430155.2_Frame_Shift_Ins_p.Y390fs|SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000469902.1_Frame_Shift_Ins_p.Y589fs|SLC12A8_ENST00000393469.4_Frame_Shift_Ins_p.Y589fs	p.Y618fs			A0AV02	S12A8_HUMAN			11	1852_1853	-			589					C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Frame_Shift_Ins	INS	ENST00000393469.4	37	c.1853_1854insA	CCDS43143.1																																																																																				0.450	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		46	79						46	79	---	---	---	---
OPA1	4976	broad.mit.edu	37	3	193382692	193382693	+	Frame_Shift_Ins	INS	-	-	TATA			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:193382692_193382693insTATA	ENST00000392438.3	+	25	2754_2755	c.2520_2521insTATA	c.(2521-2523)tatfs	p.-841fs	OPA1_ENST00000361150.2_Frame_Shift_Ins_p.-842fs|OPA1_ENST00000361908.3_Frame_Shift_Ins_p.-878fs|OPA1_ENST00000361510.2_Frame_Shift_Ins_p.-896fs|OPA1_ENST00000361828.2_Frame_Shift_Ins_p.-859fs|OPA1_ENST00000361715.2_Frame_Shift_Ins_p.-860fs	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)						apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GGCATCAAGTTTATAGAAGACA	0.327																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2683-2688)gtatagfs		optic atrophy 1 (autosomal dominant)																																				SO:0001589	frameshift_variant	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193382692_193382693insTATA	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.2521_2524dupTATA	3.37:g.193382693_193382696dupTATA	ENSP00000376233:p.Tyr841fs					OPA1_ENST00000361150.2_Frame_Shift_Ins_p.*842fs|OPA1_ENST00000361715.2_Frame_Shift_Ins_p.*860fs|OPA1_ENST00000361908.3_Frame_Shift_Ins_p.*878fs|OPA1_ENST00000361828.2_Frame_Shift_Ins_p.*859fs|OPA1_ENST00000392438.3_Frame_Shift_Ins_p.*841fs	p.*896fs	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	27	2919_2920	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		841					D3DNW4	Frame_Shift_Ins	INS	ENST00000392438.3	37	c.2685_2686insTATA	CCDS43186.1																																																																																				0.327	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		32	106						32	106	---	---	---	---
CCDC96	257236	broad.mit.edu	37	4	7044507	7044509	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:7044507_7044509delCTC	ENST00000310085.4	-	1	219_221	c.157_159delGAG	c.(157-159)gagdel	p.E53del	TADA2B_ENST00000512388.1_5'Flank|TADA2B_ENST00000310074.7_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	53	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						AAGCCGCTTGCTCCTCCTCCTCC	0.729																																						ENST00000310085.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						c.(157-159)del		coiled-coil domain containing 96				5,52,3685		0,0,5,5,42,1819						1.2	0.0			5	3,138,7455		0,0,3,11,116,3668	no	codingComplex	CCDC96	NM_153376.2		0,0,8,16,158,5487	A1A1,A1A2,A1R,A2A2,A2R,RR		1.8562,1.5232,1.7463				8,190,11140				SO:0001651	inframe_deletion	257236							g.chr4:7044507_7044509delCTC	AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.157_159delGAG	4.37:g.7044516_7044518delCTC	ENSP00000309285:p.Glu53del					RP11-367J11.2_ENST00000500031.1_RNA	p.E53del	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN			1	219_221	-			53			Glu-rich.		Q8N2I7	In_Frame_Del	DEL	ENST00000310085.4	37	c.157_159delGAG	CCDS3395.1																																																																																				0.729	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376		2	4						2	4	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126329664	126329665	+	Frame_Shift_Ins	INS	-	-	ATTT			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:126329664_126329665insATTT	ENST00000394329.3	+	4	5648_5649	c.5635_5636insATTT	c.(5635-5637)attfs	p.I1879fs	FAT4_ENST00000335110.5_Frame_Shift_Ins_p.I177fs	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1879	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AATTACATATATTGTGAATGAA	0.322																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(5635-5637)tgtfs		FAT atypical cadherin 4																																				SO:0001589	frameshift_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126329664_126329665insATTT	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	Exception_encountered	4.37:g.126329664_126329665insATTT	ENSP00000377862:p.Ile1879fs					FAT4_ENST00000335110.5_Frame_Shift_Ins_p.C177fs	p.C1879fs	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			4	5648_5649	+			1879			Cadherin 18.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Frame_Shift_Ins	INS	ENST00000394329.3	37	c.5635_5636insATTT	CCDS3732.3																																																																																				0.322	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		85	251						85	251	---	---	---	---
KIAA0922	23240	broad.mit.edu	37	4	154523863	154523863	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:154523863delA	ENST00000409663.3	+	23	2672	c.2620delA	c.(2620-2622)acgfs	p.T874fs	KIAA0922_ENST00000409959.3_Frame_Shift_Del_p.T875fs|KIAA0922_ENST00000440693.1_Frame_Shift_Del_p.T791fs	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	874						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TTGGAGGCTCACGGTCTTCTT	0.507																																						ENST00000409663.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2620-2622)cgfs		KIAA0922							161.0	160.0	160.0					4																	154523863		2203	4300	6503	SO:0001589	frameshift_variant	23240					integral to membrane		g.chr4:154523863delA	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.2620delA	4.37:g.154523863delA	ENSP00000386574:p.Thr874fs					KIAA0922_ENST00000409959.3_Frame_Shift_Del_p.T875fs|KIAA0922_ENST00000440693.1_Frame_Shift_Del_p.T791fs	p.T874fs	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN			23	2672	+	all_hematologic(180;0.093)	Renal(120;0.118)	874					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Frame_Shift_Del	DEL	ENST00000409663.3	37	c.2620delA	CCDS3783.2																																																																																				0.507	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		149	274						149	274	---	---	---	---
NRG2	9542	broad.mit.edu	37	5	139422171	139422172	+	In_Frame_Ins	INS	-	-	TAG			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:139422171_139422172insTAG	ENST00000361474.1	-	1	707_708	c.483_484insCTA	c.(481-486)gtaaag>gtaCTAaag	p.161_162VK>VLK	NRG2_ENST00000289422.7_In_Frame_Ins_p.161_162VK>VLK|NRG2_ENST00000394770.1_In_Frame_Ins_p.161_162VK>VLK|NRG2_ENST00000541337.1_In_Frame_Ins_p.161_162VK>VLK|NRG2_ENST00000545385.1_In_Frame_Ins_p.161_162VK>VLK|NRG2_ENST00000358522.3_In_Frame_Ins_p.161_162VK>VLK|NRG2_ENST00000289409.4_In_Frame_Ins_p.161_162VK>VLK	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	161					embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGCACCTTTACCAACGCCA	0.693																																						ENST00000541337.1																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(481-486)gtaggt>gtCTAaggt		neuregulin 2																																				SO:0001652	inframe_insertion	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139422171_139422172insTAG		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.483_484insCTA	5.37:g.139422171_139422172insTAG	ENSP00000354910:p.Val161_Lys162insLeu					NRG2_ENST00000545385.1_In_Frame_Ins_p.161_162VG>V*G|NRG2_ENST00000289409.4_In_Frame_Ins_p.161_162VG>V*G|NRG2_ENST00000361474.1_In_Frame_Ins_p.161_162VG>V*G|NRG2_ENST00000358522.3_In_Frame_Ins_p.161_162VG>V*G|NRG2_ENST00000394770.1_In_Frame_Ins_p.161_162VG>V*G|NRG2_ENST00000289422.7_In_Frame_Ins_p.161_162VG>V*G	p.161_162VG>V*G	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	712_713	-			161						In_Frame_Ins	INS	ENST00000361474.1	37	c.483_484insCTA	CCDS4217.1																																																																																				0.693	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		21	57						21	57	---	---	---	---
TBCC	6903	broad.mit.edu	37	6	42713500	42713501	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:42713500_42713501insA	ENST00000372876.1	-	1	333_334	c.311_312insT	c.(310-312)ttcfs	p.F104fs	TBCC_ENST00000244625.2_Frame_Shift_Ins_p.F104fs	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	104					'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			AAGCGGCTAGGAAAAAAACTGA	0.668																																						ENST00000244625.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14						c.(310-312)tctfs		tubulin folding cofactor C																																				SO:0001589	frameshift_variant	6903				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity	g.chr6:42713500_42713501insA	U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"""tubulin-specific chaperone c"""			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.312dupT	6.37:g.42713507_42713507dupA	ENSP00000361967:p.Phe104fs					TBCC_ENST00000372876.1_Frame_Shift_Ins_p.S104fs	p.S104fs			Q15814	TBCC_HUMAN	all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)		2	874_875	-	Colorectal(47;0.196)		104					Q53Y43|Q5T787	Frame_Shift_Ins	INS	ENST00000372876.1	37	c.311_312insT	CCDS4872.1																																																																																				0.668	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	NM_003192		9	868						9	868	---	---	---	---
ENPP4	22875	broad.mit.edu	37	6	46108939	46108940	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:46108939_46108940insA	ENST00000321037.4	+	3	1207_1208	c.977_978insA	c.(976-981)ctaaatfs	p.N327fs		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	327					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						ACAATTGTGCTAAATGAATCAT	0.337																																						ENST00000321037.4																			0				central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						c.(976-978)caafs		ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)																																				SO:0001589	frameshift_variant	22875					integral to membrane	hydrolase activity	g.chr6:46108939_46108940insA	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.980dupA	6.37:g.46108942_46108942dupA	ENSP00000318066:p.Asn327fs						p.Q326fs	NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN			3	1207_1208	+			326					A8K5G1|Q7L2N1	Frame_Shift_Ins	INS	ENST00000321037.4	37	c.977_978insA	CCDS34468.1																																																																																				0.337	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			364	126						364	126	---	---	---	---
SNX14	57231	broad.mit.edu	37	6	86223568	86223568	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:86223568delT	ENST00000314673.3	-	26	2779	c.2603delA	c.(2602-2604)aagfs	p.K868fs	SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000369627.2_Frame_Shift_Del_p.K859fs|SNX14_ENST00000505648.1_Frame_Shift_Del_p.K816fs|SNX14_ENST00000346348.3_Frame_Shift_Del_p.K815fs|SNX14_ENST00000513865.1_Frame_Shift_Del_p.K587fs	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	868					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TCCTTTTTGCTTATCTTGGAG	0.303																																						ENST00000314673.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22						c.(2602-2604)agfs		sorting nexin 14							89.0	91.0	90.0					6																	86223568		2203	4296	6499	SO:0001589	frameshift_variant	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86223568delT	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.2603delA	6.37:g.86223568delT	ENSP00000313121:p.Lys868fs					SNX14_ENST00000513865.1_Frame_Shift_Del_p.K587fs|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000346348.3_Frame_Shift_Del_p.K815fs|SNX14_ENST00000505648.1_Frame_Shift_Del_p.K816fs|SNX14_ENST00000369627.2_Frame_Shift_Del_p.K859fs	p.K868fs	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	26	2779	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	868					B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Frame_Shift_Del	DEL	ENST00000314673.3	37	c.2603delA	CCDS5004.1																																																																																				0.303	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		65	76						65	76	---	---	---	---
GUSB	2990	broad.mit.edu	37	7	65429390	65429396	+	Frame_Shift_Del	DEL	TGGTACT	TGGTACT	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:65429390_65429396delTGGTACT	ENST00000304895.4	-	11	1833_1839	c.1703_1709delAGTACCA	c.(1702-1710)cagtaccatfs	p.QYH568fs	GUSB_ENST00000421103.1_Frame_Shift_Del_p.QYH422fs|GUSB_ENST00000345660.6_Frame_Shift_Del_p.QYH517fs	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	568					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CAGACCCAGATGGTACTGCTCTAGCAG	0.435																																						ENST00000304895.4																			0				breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						c.(1702-1710)ctfs		glucuronidase, beta																																				SO:0001589	frameshift_variant	2990				glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding	g.chr7:65429390_65429396delTGGTACT	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1703_1709delAGTACCA	7.37:g.65429390_65429396delTGGTACT	ENSP00000302728:p.Gln568fs					GUSB_ENST00000421103.1_Frame_Shift_Del_p.QYH422fs|GUSB_ENST00000345660.6_Frame_Shift_Del_p.QYH517fs	p.QYH568fs	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN			11	1833_1839	-			568					B4E1F6|E9PCV0|Q549U0|Q96CL9	Frame_Shift_Del	DEL	ENST00000304895.4	37	c.1703_1709delAGTACCA	CCDS5530.1																																																																																				0.435	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		59	102						59	102	---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103341320	103341324	+	Frame_Shift_Del	DEL	TGTTA	TGTTA	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:103341320_103341324delTGTTA	ENST00000520539.1	-	11	1926_1930	c.1320_1324delTAACA	c.(1318-1326)aataacaagfs	p.NN440fs	UBR5_ENST00000220959.4_Frame_Shift_Del_p.NN440fs|UBR5_ENST00000521922.1_Frame_Shift_Del_p.NN434fs	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	440					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTTCATACCTTGTTATTTTCTGTAG	0.327																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(1318-1326)aaagfs		ubiquitin protein ligase E3 component n-recognin 5																																				SO:0001589	frameshift_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103341320_103341324delTGTTA	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1320_1324delTAACA	8.37:g.103341320_103341324delTGTTA	ENSP00000429084:p.Asn440fs					UBR5_ENST00000521922.1_Frame_Shift_Del_p.NNK434fs|UBR5_ENST00000220959.4_Frame_Shift_Del_p.NNK440fs	p.NNK440fs	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		11	1926_1930	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		440					B2RP24|J3KMW7|O94970|Q9NPL3	Frame_Shift_Del	DEL	ENST00000520539.1	37	c.1320_1324delTAACA	CCDS34933.1																																																																																				0.327	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		125	229						125	229	---	---	---	---
SAAL1	113174	broad.mit.edu	37	11	18124827	18124828	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:18124827_18124828insT	ENST00000524803.1	-	2	250_251	c.201_202insA	c.(199-204)gaagaafs	p.E68fs	SAAL1_ENST00000529318.1_Frame_Shift_Ins_p.E68fs|SAAL1_ENST00000300013.4_Frame_Shift_Ins_p.E68fs|SAAL1_ENST00000533851.1_5'UTR			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	68										breast(2)|large_intestine(5)|lung(8)	15						TTCTCCATTTCTTCATCAAGCT	0.401																																						ENST00000524803.1																			0				breast(2)|large_intestine(5)|lung(8)	15						c.(199-204)gaaaatfs		serum amyloid A-like 1																																				SO:0001589	frameshift_variant	113174				acute-phase response	extracellular region	binding	g.chr11:18124827_18124828insT	AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.202dupA	11.37:g.18124829_18124829dupT	ENSP00000432487:p.Glu68fs					SAAL1_ENST00000300013.4_Frame_Shift_Ins_p.N68fs|SAAL1_ENST00000529318.1_Frame_Shift_Ins_p.N68fs|SAAL1_ENST00000533851.1_5'UTR	p.N68fs			Q96ER3	SAAL1_HUMAN			2	250_251	-			68					A6NH05	Frame_Shift_Ins	INS	ENST00000524803.1	37	c.201_202insA	CCDS31439.1																																																																																				0.401	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389728.1	NM_138421		137	314						137	314	---	---	---	---
CUL5	8065	broad.mit.edu	37	11	107940858	107940859	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:107940858_107940859delAT	ENST00000393094.2	+	8	1432_1433	c.816_817delAT	c.(814-819)tcatttfs	p.F273fs		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	273					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TGGTGACATCATTTAAAGAGAC	0.347																																						ENST00000393094.2																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(814-819)tcttfs		cullin 5																																				SO:0001589	frameshift_variant	8065				cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	g.chr11:107940858_107940859delAT	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.816_817delAT	11.37:g.107940858_107940859delAT	ENSP00000376808:p.Phe273fs						p.SF272fs	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	8	1432_1433	+		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	272					A8K960|O14766|Q9BZC6	Frame_Shift_Del	DEL	ENST00000393094.2	37	c.816_817delAT	CCDS31668.1																																																																																				0.347	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			46	285						46	285	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			646405							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			6	13						6	13	---	---	---	---
EIF3LP1	319117	broad.mit.edu	37	14	82383671	82383671	+	lincRNA	DEL	C	C	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:82383671delC	ENST00000554814.1	+	0	315																											TCATGATGTACCCCATGCATA	0.488																																						ENST00000554814.1																			0																																																			319117							g.chr14:82383671delC																													14.37:g.82383671delC														0	315	+									RNA	DEL	ENST00000554814.1	37																																																																																						0.488	RP11-666E17.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000413276.1			15	43						15	43	---	---	---	---
SLC24A1	9187	broad.mit.edu	37	15	65918177	65918179	+	In_Frame_Del	DEL	CTG	CTG	-	rs370680044		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:65918177_65918179delCTG	ENST00000261892.6	+	2	2046_2048	c.1759_1761delCTG	c.(1759-1761)ctgdel	p.L591del	SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	591					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTGGGAGAGCCTGCTGCTGCTGC	0.547																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1759-1761)del		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1				99,3943		8,83,1930						4.1	1.0			151	234,7914		7,220,3847	no	coding	SLC24A1	NM_004727.2		15,303,5777	A1A1,A1R,RR		2.8719,2.4493,2.7317				333,11857				SO:0001651	inframe_deletion	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65918177_65918179delCTG	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.1759_1761delCTG	15.37:g.65918186_65918188delCTG	ENSP00000261892:p.Leu591del					SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del	p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			2	2046_2048	+			591					O43485|O75184|Q17RM9	In_Frame_Del	DEL	ENST00000261892.6	37	c.1759_1761delCTG	CCDS45284.1																																																																																				0.547	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		7	194						7	194	---	---	---	---
TMEM8A	58986	broad.mit.edu	37	16	437259	437260	+	5'Flank	DEL	AT	AT	-	rs148097303		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:437259_437260delAT	ENST00000476735.1	-	0	0				Z97634.3_ENST00000412293.1_RNA			Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A						cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CTAATTCTAAATATATATATAT	0.421																																						ENST00000412293.1																			0																																																	SO:0001631	upstream_gene_variant	100134368							g.chr16:437259_437260delAT	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996		16.37:g.437269_437270delAT	Exception_encountered							NR_024453.2						0	521	+								D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	RNA	DEL	ENST00000476735.1	37																																																																																						0.421	TMEM8A-007	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000313680.1	NM_021259		7	28						7	28	---	---	---	---
GLIS2	84662	broad.mit.edu	37	16	4383391	4383392	+	In_Frame_Ins	INS	-	-	TTT	rs370568910		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:4383391_4383392insTTT	ENST00000262366.3	+	4	1037_1038	c.216_217insTTT	c.(217-219)ttt>TTTttt	p.73_73F>FF	GLIS2_ENST00000433375.1_In_Frame_Ins_p.73_73F>FF|PAM16_ENST00000577031.1_Intron|RP11-295D4.1_ENST00000574705.1_RNA			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	73	Interaction with CTNND1. {ECO:0000250}.|Transcription activation. {ECO:0000250}.				cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGGAGGGACGCTTTTCAGCAGC	0.639																																						ENST00000262366.3																			0				breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(214-219)cgtttc>cgTTTtttc		GLIS family zinc finger 2																																				SO:0001652	inframe_insertion	84662				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding	g.chr16:4383391_4383392insTTT	AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"""Zinc fingers, C2H2-type"""	29450	protein-coding gene	gene with protein product	"""nephrocystin-7"""	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.217_219dupTTT	16.37:g.4383392_4383394dupTTT	ENSP00000262366:p.Phe73dup					GLIS2_ENST00000433375.1_In_Frame_Ins_p.73_74insF|PAM16_ENST00000577031.1_Intron	p.73_74insF			Q9BZE0	GLIS2_HUMAN			4	1037_1038	+			73			Interaction with CTNND1 (By similarity).|Transcription activation (By similarity).		B3KX84	In_Frame_Ins	INS	ENST00000262366.3	37	c.216_217insTTT	CCDS10511.1																																																																																				0.639	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251630.1	NM_032575		22	38						22	38	---	---	---	---
SEC14L1	6397	broad.mit.edu	37	17	75208208	75208209	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:75208208_75208209insAA	ENST00000413679.2	+	15	2091_2092	c.1788_1789insAA	c.(1789-1791)aaafs	p.K597fs	SEC14L1_ENST00000591437.1_Frame_Shift_Ins_p.K563fs|SEC14L1_ENST00000443798.4_Frame_Shift_Ins_p.K597fs|SEC14L1_ENST00000392476.2_Frame_Shift_Ins_p.K597fs|SEC14L1_ENST00000436233.4_Frame_Shift_Ins_p.K597fs|SEC14L1_ENST00000585618.1_Frame_Shift_Ins_p.K597fs|SEC14L1_ENST00000430767.4_Frame_Shift_Ins_p.K597fs|SEC14L1_ENST00000431431.2_Frame_Shift_Ins_p.K563fs	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	597	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						AGCTCATAGACAAAGTCTGGCA	0.545																																						ENST00000413679.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.(1786-1791)gaaagtfs		SEC14-like 1 (S. cerevisiae)																																				SO:0001589	frameshift_variant	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75208208_75208209insAA	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1789_1790dupAA	17.37:g.75208209_75208210dupAA	ENSP00000394716:p.Lys597fs					SEC14L1_ENST00000431431.2_Frame_Shift_Ins_p.S563fs|SEC14L1_ENST00000430767.4_Frame_Shift_Ins_p.S597fs|SEC14L1_ENST00000436233.4_Frame_Shift_Ins_p.S597fs|SEC14L1_ENST00000443798.4_Frame_Shift_Ins_p.S597fs|SEC14L1_ENST00000591437.1_Frame_Shift_Ins_p.S563fs|SEC14L1_ENST00000585618.1_Frame_Shift_Ins_p.S597fs|SEC14L1_ENST00000392476.2_Frame_Shift_Ins_p.S597fs	p.S597fs	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN			15	2091_2092	+			597			GOLD.		A8K4E8|B4DDI5|D5G3K1|Q99780	Frame_Shift_Ins	INS	ENST00000413679.2	37	c.1788_1789insAA	CCDS11752.1																																																																																				0.545	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		187	443						187	443	---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5397069	5397069	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr18:5397069delT	ENST00000341928.2	-	18	3169	c.2829delA	c.(2827-2829)aaafs	p.K943fs	EPB41L3_ENST00000542146.1_Frame_Shift_Del_p.K248fs|EPB41L3_ENST00000342933.3_Frame_Shift_Del_p.K943fs|EPB41L3_ENST00000544123.1_Frame_Shift_Del_p.K774fs|EPB41L3_ENST00000540638.2_Frame_Shift_Del_p.K721fs|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Frame_Shift_Del_p.K240fs|EPB41L3_ENST00000400111.3_Frame_Shift_Del_p.K721fs	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	943	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CAAAATGAGGTTTTTGTTCCA	0.413																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2827-2829)aafs		erythrocyte membrane protein band 4.1-like 3							73.0	73.0	73.0					18																	5397069		2203	4300	6503	SO:0001589	frameshift_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5397069delT	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2829delA	18.37:g.5397069delT	ENSP00000343158:p.Lys943fs					EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Frame_Shift_Del_p.K240fs|EPB41L3_ENST00000542146.1_Frame_Shift_Del_p.K248fs|EPB41L3_ENST00000544123.1_Frame_Shift_Del_p.K774fs|EPB41L3_ENST00000400111.3_Frame_Shift_Del_p.K721fs|EPB41L3_ENST00000342933.3_Frame_Shift_Del_p.K943fs|EPB41L3_ENST00000540638.2_Frame_Shift_Del_p.K721fs	p.K943fs	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			18	3169	-			943			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Frame_Shift_Del	DEL	ENST00000341928.2	37	c.2829delA	CCDS11838.1																																																																																				0.413	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		59	108						59	108	---	---	---	---
LOC100420587	100420587	broad.mit.edu	37	19	29198696	29198696	+	lincRNA	DEL	A	A	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:29198696delA	ENST00000592347.1	-	0	642																											GTCCATGAGTAGGGTCCACAG	0.463																																						ENST00000592347.1																			0																																																			100420587							g.chr19:29198696delA																													19.37:g.29198696delA														0	642	-									RNA	DEL	ENST00000592347.1	37																																																																																						0.463	AC005307.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000453069.1			2	4						2	4	---	---	---	---
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	TC	-	rs374290353		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:6727803_6727804delTC	ENST00000377577.5	-	4	466_467	c.343_344delGA	c.(343-345)gaafs	p.E116fs	DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	116						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505																																						ENST00000377577.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(343-345)afs		DnaJ (Hsp40) homolog, subfamily C, member 11																																				SO:0001589	frameshift_variant	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6727803_6727804delTC	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.343_344delGA	1.37:g.6727813_6727814delTC	ENSP00000366800:p.Glu116fs					DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs	p.E116fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	4	466_467	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	116					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Frame_Shift_Del	DEL	ENST00000377577.5	37	c.343_344delGA	CCDS87.1																																																																																				0.505	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		7	87						7	87	---	---	---	---
CROCCP2	84809	broad.mit.edu	37	1	16953827	16953828	+	lincRNA	INS	-	-	C	rs57007114|rs397767732		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:16953827_16953828insC	ENST00000412962.1	-	0	477							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TCACTTTCCTGCCCGAACCTCC	0.609																																						ENST00000412962.1																			0																																																			84809							g.chr1:16953827_16953828insC	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16953830_16953830dupC														0	477	-								Q8NF65|Q96FR5|Q9BRE8	RNA	INS	ENST00000412962.1	37																																																																																						0.609	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		8	27						8	27	---	---	---	---
CLCA2	9635	broad.mit.edu	37	1	86921042	86921043	+	Frame_Shift_Ins	INS	-	-	C	rs375222512		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:86921042_86921043insC	ENST00000370565.4	+	14	2826_2827	c.2664_2665insC	c.(2665-2667)cccfs	p.P889fs		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	889					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CTCTGTTTATTCCCCCCAATTC	0.396																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	ENST00000370565.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42						c.(2662-2667)atccccfs		chloride channel accessory 2																																				SO:0001589	frameshift_variant	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86921042_86921043insC		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.2670dupC	1.37:g.86921048_86921048dupC	ENSP00000359596:p.Pro889fs						p.IP888fs	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	14	2826_2827	+		Lung NSC(277;0.238)	888					A8K2T3|Q9Y6N2	Frame_Shift_Ins	INS	ENST00000370565.4	37	c.2664_2665insC	CCDS708.1																																																																																				0.396	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		7	258						7	258	---	---	---	---
CAMK1G	57172	broad.mit.edu	37	1	209782336	209782337	+	Frame_Shift_Ins	INS	-	-	C	rs144298174		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:209782336_209782337insC	ENST00000009105.1	+	8	892_893	c.647_648insC	c.(646-651)taccccfs	p.YP216fs	CAMK1G_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Frame_Shift_Ins_p.YP216fs			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	216	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CTCTGTGGATACCCCCCATTCT	0.51																																					Ovarian(163;530 1939 9680 28669 48710)	ENST00000009105.1																			0				breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20						c.(646-648)tccfs		calcium/calmodulin-dependent protein kinase IG																																				SO:0001589	frameshift_variant	57172					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr1:209782336_209782337insC		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.653dupC	1.37:g.209782342_209782342dupC	ENSP00000009105:p.Tyr216fs					CAMK1G_ENST00000361322.2_Frame_Shift_Ins_p.S216fs|CAMK1G_ENST00000494990.1_3'UTR	p.S216fs			Q96NX5	KCC1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0475)	8	892_893	+			216			Protein kinase.		Q86UH5|Q9Y3J7	Frame_Shift_Ins	INS	ENST00000009105.1	37	c.647_648insC	CCDS1486.1																																																																																				0.510	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439		7	569						7	569	---	---	---	---
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-	rs368798001		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:96992793_96992795delGAG	ENST00000439118.2	+	3	675_677	c.424_426delGAG	c.(424-426)gagdel	p.E147del	ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000361124.4_In_Frame_Del_p.E155del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	147						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532																																						ENST00000361124.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(448-450)del		inositol 1,4,5-trisphosphate receptor interacting protein-like 1																																				SO:0001651	inframe_deletion	150771					integral to membrane		g.chr2:96992793_96992795delGAG		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.424_426delGAG	2.37:g.96992802_96992804delGAG	ENSP00000389308:p.Glu147del					ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del	p.E155del	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN			1	859_861	+			147					F5H1L8|Q8NE61	In_Frame_Del	DEL	ENST00000439118.2	37	c.448_450delGAG	CCDS46360.1																																																																																				0.532	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		7	202						7	202	---	---	---	---
MYO7B	4648	broad.mit.edu	37	2	128383065	128383066	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:128383065_128383066insC	ENST00000409816.2	+	29	4124_4125	c.4092_4093insC	c.(4093-4095)cccfs	p.P1365fs	MYO7B_ENST00000428314.1_Frame_Shift_Ins_p.P1365fs|RP11-286H15.1_ENST00000609697.1_RNA|MYO7B_ENST00000389524.4_Frame_Shift_Ins_p.P1365fs|MYO7B_ENST00000409090.1_Frame_Shift_Ins_p.P218fs			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1365	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACAGGACCAAGCCCCCAGACAG	0.678																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(4090-4095)aaccccfs		myosin VIIB																																				SO:0001589	frameshift_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128383065_128383066insC		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.4097dupC	2.37:g.128383070_128383070dupC	ENSP00000386461:p.Pro1365fs					MYO7B_ENST00000409090.1_Frame_Shift_Ins_p.NP217fs|MYO7B_ENST00000428314.1_Frame_Shift_Ins_p.NP1364fs|MYO7B_ENST00000409816.2_Frame_Shift_Ins_p.NP1364fs	p.NP1364fs			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	30	4145_4146	+	Colorectal(110;0.1)		1364			FERM 1.		Q14786|Q8TEE1	Frame_Shift_Ins	INS	ENST00000409816.2	37	c.4092_4093insC	CCDS46405.1																																																																																				0.678	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		8	1106						8	1106	---	---	---	---
WDR5B	54554	broad.mit.edu	37	3	122133489	122133489	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:122133489delT	ENST00000330689.4	-	1	1393	c.887delA	c.(886-888)catfs	p.H296fs	RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608465.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	296										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		AACATCTGTATGGCCTTGTAA	0.408																																						ENST00000330689.4																			0				kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13						c.(886-888)ctfs		WD repeat domain 5B							165.0	152.0	156.0					3																	122133489		2203	4300	6503	SO:0001589	frameshift_variant	54554							g.chr3:122133489delT	AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"""WD repeat domain containing"""	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.887delA	3.37:g.122133489delT	ENSP00000330381:p.His296fs						p.H296fs	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0704)	1	1393	-			296					B2RCM9|Q9NUL4	Frame_Shift_Del	DEL	ENST00000330689.4	37	c.887delA	CCDS3012.1																																																																																				0.408	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1	NM_019069		20	395						20	395	---	---	---	---
SLC12A8	84561	broad.mit.edu	37	3	124810981	124810982	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:124810981_124810982insT	ENST00000393469.4	-	10	1815_1816	c.1766_1767insA	c.(1765-1767)tatfs	p.Y589fs	SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000430155.2_Frame_Shift_Ins_p.Y390fs|SLC12A8_ENST00000423114.2_Frame_Shift_Ins_p.Y618fs|SLC12A8_ENST00000469902.1_Frame_Shift_Ins_p.Y589fs	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	589					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						ACATGTGGGTATAGAAAGAAGT	0.45																																						ENST00000423114.2																			0				endometrium(2)|kidney(2)|lung(12)	16						c.(1852-1854)tacfs		solute carrier family 12, member 8																																				SO:0001589	frameshift_variant	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124810981_124810982insT		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.1767dupA	3.37:g.124810982_124810982dupT	ENSP00000377112:p.Tyr589fs					SLC12A8_ENST00000393469.4_Frame_Shift_Ins_p.Y589fs|SLC12A8_ENST00000430155.2_Frame_Shift_Ins_p.Y390fs|SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000469902.1_Frame_Shift_Ins_p.Y589fs	p.Y618fs			A0AV02	S12A8_HUMAN			11	1852_1853	-			589					C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Frame_Shift_Ins	INS	ENST00000393469.4	37	c.1853_1854insA	CCDS43143.1																																																																																				0.450	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		37	118						37	118	---	---	---	---
DSP	1832	broad.mit.edu	37	6	7542148	7542149	+	De_novo_Start_InFrame	INS	-	-	A	rs17133512|rs75823494	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:7542148_7542149insA	ENST00000379802.3	+	0	341_342				RP3-512B11.3_ENST00000561592.1_RNA|DSP_ENST00000418664.2_De_novo_Start_InFrame	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin						adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGCCCGCCGACATGAGCTGCAA	0.718													|||unknown(LONG_INSERTION)	1000	0.199681	0.2186	0.2291	5008	,	,		12541	0.2778		0.1451	False		,,,				2504	0.1288					ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101								desmoplakin			,	867,3321		117,633,1344					,	0.8	1.0		dbSNP_123	10	1183,6941		133,917,3012	no	frameshift,frameshift	DSP	NM_004415.2,NM_001008844.1	,	250,1550,4356	A1A1,A1R,RR		14.5618,20.702,16.6504	,	,		2050,10262						1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7542148_7542149insA	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212		6.37:g.7542149_7542149dupA						DSP_ENST00000418664.2_De_novo_Start_InFrame		NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	0	341_342	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)						B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Translation_Start_Site	INS	ENST00000379802.3	37		CCDS4501.1																																																																																				0.718	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		13	2						13	2	---	---	---	---
LRFN2	57497	broad.mit.edu	37	6	40399587	40399588	+	Frame_Shift_Ins	INS	-	-	G	rs374295744|rs201054196		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:40399587_40399588insG	ENST00000338305.6	-	2	1807_1808	c.1265_1266insC	c.(1264-1266)ccgfs	p.P422fs		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	422	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAGCCCGTTCCGGGGGGCTTTT	0.639																																						ENST00000338305.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1264-1266)cgafs		leucine rich repeat and fibronectin type III domain containing 2																																				SO:0001589	frameshift_variant	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40399587_40399588insG	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1266dupC	6.37:g.40399593_40399593dupG	ENSP00000345985:p.Pro422fs						p.R422fs	NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN			2	1807_1808	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		422			Fibronectin type-III.		A5PKU3|Q5SYP9	Frame_Shift_Ins	INS	ENST00000338305.6	37	c.1265_1266insC	CCDS34443.1																																																																																				0.639	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		16	655						16	655	---	---	---	---
GLTSCR1L	23506	broad.mit.edu	37	6	42819857	42819858	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:42819857_42819858insC	ENST00000314073.5	+	7	2043_2044	c.1867_1868insC	c.(1867-1869)tccfs	p.S623fs	GLTSCR1L_ENST00000394168.1_Frame_Shift_Ins_p.S623fs			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	623																	GAATCAGACTTCCCCCATTTCT	0.441																																						ENST00000314073.5																			0											c.(1867-1869)cccfs		GLTSCR1-like																																				SO:0001589	frameshift_variant	23506							g.chr6:42819857_42819858insC	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.1872dupC	6.37:g.42819862_42819862dupC	ENSP00000313933:p.Ser623fs					GLTSCR1L_ENST00000394168.1_Frame_Shift_Ins_p.P623fs	p.P623fs							7	2043_2044	+								A1L3W2|Q5TFZ3|Q92514	Frame_Shift_Ins	INS	ENST00000314073.5	37	c.1867_1868insC	CCDS34451.1																																																																																				0.441	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		9	1693						9	1693	---	---	---	---
SNX14	57231	broad.mit.edu	37	6	86223568	86223568	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:86223568delT	ENST00000314673.3	-	26	2779	c.2603delA	c.(2602-2604)aagfs	p.K868fs	SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000369627.2_Frame_Shift_Del_p.K859fs|SNX14_ENST00000505648.1_Frame_Shift_Del_p.K816fs|SNX14_ENST00000346348.3_Frame_Shift_Del_p.K815fs|SNX14_ENST00000513865.1_Frame_Shift_Del_p.K587fs	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	868					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TCCTTTTTGCTTATCTTGGAG	0.303																																						ENST00000314673.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22						c.(2602-2604)agfs		sorting nexin 14							89.0	91.0	90.0					6																	86223568		2203	4296	6499	SO:0001589	frameshift_variant	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86223568delT	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.2603delA	6.37:g.86223568delT	ENSP00000313121:p.Lys868fs					SNX14_ENST00000505648.1_Frame_Shift_Del_p.K816fs|SNX14_ENST00000369627.2_Frame_Shift_Del_p.K859fs|SNX14_ENST00000346348.3_Frame_Shift_Del_p.K815fs|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Frame_Shift_Del_p.K587fs	p.K868fs	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	26	2779	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	868					B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Frame_Shift_Del	DEL	ENST00000314673.3	37	c.2603delA	CCDS5004.1																																																																																				0.303	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		16	5						16	5	---	---	---	---
SDK1	221935	broad.mit.edu	37	7	4245587	4245588	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr7:4245587_4245588insC	ENST00000404826.2	+	36	5314_5315	c.5175_5176insC	c.(5176-5178)cccfs	p.P1726fs	SDK1_ENST00000389531.3_Frame_Shift_Ins_p.P1706fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1726	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGGACCCACCACCCCCGGAGAG	0.668																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(5173-5178)ccccccfs		sidekick cell adhesion molecule 1																																				SO:0001589	frameshift_variant	221935				cell adhesion	integral to membrane		g.chr7:4245587_4245588insC	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5180dupC	7.37:g.4245592_4245592dupC	ENSP00000385899:p.Pro1726fs					SDK1_ENST00000389531.3_Frame_Shift_Ins_p.PP1705fs	p.PP1725fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	36	5314_5315	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1725			Fibronectin type-III 11.		Q8TEN9|Q8TEP5|Q96N44	Frame_Shift_Ins	INS	ENST00000404826.2	37	c.5175_5176insC	CCDS34590.1																																																																																				0.668	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		4	6						4	6	---	---	---	---
RBAK	57786	broad.mit.edu	37	7	5104048	5104050	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr7:5104048_5104050delGAA	ENST00000353796.3	+	6	1285_1287	c.961_963delGAA	c.(961-963)gaadel	p.E321del	RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000396912.1_In_Frame_Del_p.E321del	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	321					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TAAATGTAATGAATGTGGGAAAA	0.419																																						ENST00000396912.1																			0				NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10						c.(961-963)del		RB-associated KRAB zinc finger																																				SO:0001651	inframe_deletion	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5104048_5104050delGAA	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.961_963delGAA	7.37:g.5104048_5104050delGAA	ENSP00000275423:p.Glu321del					RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_In_Frame_Del_p.E321del	p.E321del	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	5	1480_1482	+		Ovarian(82;0.0175)	321					A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	In_Frame_Del	DEL	ENST00000353796.3	37	c.961_963delGAA	CCDS5337.1																																																																																				0.419	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		10	221						10	221	---	---	---	---
GUSB	2990	broad.mit.edu	37	7	65429390	65429396	+	Frame_Shift_Del	DEL	TGGTACT	TGGTACT	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr7:65429390_65429396delTGGTACT	ENST00000304895.4	-	11	1833_1839	c.1703_1709delAGTACCA	c.(1702-1710)cagtaccatfs	p.QYH568fs	GUSB_ENST00000421103.1_Frame_Shift_Del_p.QYH422fs|GUSB_ENST00000345660.6_Frame_Shift_Del_p.QYH517fs	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	568					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CAGACCCAGATGGTACTGCTCTAGCAG	0.435																																						ENST00000304895.4																			0				breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						c.(1702-1710)ctfs		glucuronidase, beta																																				SO:0001589	frameshift_variant	2990				glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding	g.chr7:65429390_65429396delTGGTACT	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1703_1709delAGTACCA	7.37:g.65429390_65429396delTGGTACT	ENSP00000302728:p.Gln568fs					GUSB_ENST00000345660.6_Frame_Shift_Del_p.QYH517fs|GUSB_ENST00000421103.1_Frame_Shift_Del_p.QYH422fs	p.QYH568fs	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN			11	1833_1839	-			568					B4E1F6|E9PCV0|Q549U0|Q96CL9	Frame_Shift_Del	DEL	ENST00000304895.4	37	c.1703_1709delAGTACCA	CCDS5530.1																																																																																				0.435	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		10	79						10	79	---	---	---	---
SLC12A9	56996	broad.mit.edu	37	7	100459489	100459490	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr7:100459489_100459490insG	ENST00000354161.3	+	12	1792_1793	c.1667_1668insG	c.(1666-1671)aaggggfs	p.KG556fs	SLC12A9_ENST00000415287.1_Frame_Shift_Ins_p.KG467fs|SLC12A9_ENST00000275729.3_Frame_Shift_Ins_p.KG467fs|SLC12A9_ENST00000428758.1_Frame_Shift_Ins_p.KG556fs|SLC12A9_ENST00000540482.1_Frame_Shift_Ins_p.KG556fs	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	556					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAGCTTAAGAAGGGGGGGCTGT	0.644																																						ENST00000354161.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(1666-1668)aggfs		solute carrier family 12, member 9																																				SO:0001589	frameshift_variant	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100459489_100459490insG	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1674dupG	7.37:g.100459496_100459496dupG	ENSP00000275730:p.Lys556fs					SLC12A9_ENST00000275729.3_Frame_Shift_Ins_p.R467fs|SLC12A9_ENST00000428758.1_Frame_Shift_Ins_p.R556fs|SLC12A9_ENST00000415287.1_Frame_Shift_Ins_p.R467fs|SLC12A9_ENST00000540482.1_Frame_Shift_Ins_p.R556fs	p.R556fs	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			12	1792_1793	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		556					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Frame_Shift_Ins	INS	ENST00000354161.3	37	c.1667_1668insG	CCDS5707.1																																																																																				0.644	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		7	105						7	105	---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98211548	98211549	+	Frame_Shift_Ins	INS	-	-	G	rs138240178	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr9:98211548_98211549insG	ENST00000331920.6	-	22	3905_3906	c.3606_3607insC	c.(3604-3609)cccagcfs	p.S1203fs	PTCH1_ENST00000437951.1_Frame_Shift_Ins_p.S1137fs|PTCH1_ENST00000418258.1_Frame_Shift_Ins_p.S1052fs|PTCH1_ENST00000421141.1_Frame_Shift_Ins_p.S1052fs|PTCH1_ENST00000375274.2_Frame_Shift_Ins_p.S1202fs|PTCH1_ENST00000430669.2_Frame_Shift_Ins_p.S1137fs|PTCH1_ENST00000429896.2_Frame_Shift_Ins_p.S1052fs	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1203					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.S1203fs*52(2)|p.S1202fs*52(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CGGACCACGCTGGGGGGTGGCT	0.594																																						ENST00000430669.2																			3	Deletion - Frameshift(3)	p.S1203fs*52(2)|p.S1202fs*52(1)	large_intestine(3)	NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(3406-3411)ccgcgtfs		patched 1																																				SO:0001589	frameshift_variant	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98211548_98211549insG	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3607dupC	9.37:g.98211554_98211554dupG	ENSP00000332353:p.Ser1203fs					PTCH1_ENST00000331920.6_Frame_Shift_Ins_p.R1203fs|PTCH1_ENST00000421141.1_Frame_Shift_Ins_p.R1052fs|PTCH1_ENST00000437951.1_Frame_Shift_Ins_p.R1137fs|PTCH1_ENST00000418258.1_Frame_Shift_Ins_p.R1052fs|PTCH1_ENST00000429896.2_Frame_Shift_Ins_p.R1052fs|PTCH1_ENST00000375274.2_Frame_Shift_Ins_p.R1202fs	p.R1137fs			Q13635	PTC1_HUMAN			22	3993_3994	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	1203					A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Frame_Shift_Ins	INS	ENST00000331920.6	37	c.3408_3409insC	CCDS6714.1																																																																																				0.594	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		2	4						2	4	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109691601	109691602	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr9:109691601_109691602insG	ENST00000277225.5	+	3	5697_5698	c.5408_5409insG	c.(5407-5412)ttggggfs	p.LG1803fs	ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.LG1803fs|ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.LG648fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1803					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCCAGCAAGTTGGGGGGCTACT	0.55																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(5407-5409)tggfs		zinc finger protein 462																																				SO:0001589	frameshift_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109691601_109691602insG	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5414dupG	9.37:g.109691607_109691607dupG	ENSP00000277225:p.Leu1803fs					ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs|ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs	p.W1803fs			Q96JM2	ZN462_HUMAN			3	5697_5698	+			1803					Q5T0T4|Q8N408	Frame_Shift_Ins	INS	ENST00000277225.5	37	c.5408_5409insG	CCDS35096.1																																																																																				0.550	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		7	398						7	398	---	---	---	---
SEC16A	9919	broad.mit.edu	37	9	139345822	139345823	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr9:139345822_139345823insG	ENST00000371706.3	-	21	5696_5697	c.5663_5664insC	c.(5662-5664)ccafs	p.P1888fs	SEC16A_ENST00000290037.6_Frame_Shift_Ins_p.P1888fs|SEC16A_ENST00000313050.7_Frame_Shift_Ins_p.P2066fs|SEC16A_ENST00000313084.5_5'Flank|SEC16A_ENST00000431893.2_Frame_Shift_Ins_p.P1888fs|SEC16A_ENST00000398335.1_5'Flank			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1888	Pro-rich.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GATCCCACCCTGGGGGGGCCTC	0.629																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6196-6198)cggfs		SEC16 homolog A (S. cerevisiae)																																				SO:0001589	frameshift_variant	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139345822_139345823insG	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.5664dupC	9.37:g.139345829_139345829dupG	ENSP00000360771:p.Pro1888fs					SEC16A_ENST00000290037.6_Frame_Shift_Ins_p.R1888fs|SEC16A_ENST00000431893.2_Frame_Shift_Ins_p.R1888fs|SEC16A_ENST00000371706.3_Frame_Shift_Ins_p.R1888fs	p.R2066fs	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	21	6270_6271	-		Myeloproliferative disorder(178;0.0511)	1888			Pro-rich.|Required for interaction with SEC23A.		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Frame_Shift_Ins	INS	ENST00000371706.3	37	c.6197_6198insC																																																																																					0.629	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		7	44						7	44	---	---	---	---
ARNTL	406	broad.mit.edu	37	11	13398236	13398237	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:13398236_13398237insC	ENST00000403290.1	+	16	1730_1731	c.1375_1376insC	c.(1375-1377)tccfs	p.S459fs	ARNTL_ENST00000361003.4_Frame_Shift_Ins_p.S341fs|ARNTL_ENST00000403482.3_Frame_Shift_Ins_p.S457fs|ARNTL_ENST00000389707.4_Frame_Shift_Ins_p.S458fs|ARNTL_ENST00000396441.3_Frame_Shift_Ins_p.S458fs|ARNTL_ENST00000403510.3_Frame_Shift_Ins_p.S415fs|ARNTL_ENST00000389708.3_Frame_Shift_Ins_p.P491fs|ARNTL_ENST00000401424.1_Frame_Shift_Ins_p.S416fs			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	459					circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		GCTCACAGCATCCCCCCACAGC	0.584																																						ENST00000389708.3																			0				breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20						c.(1468-1473)caccccfs		aryl hydrocarbon receptor nuclear translocator-like																																				SO:0001589	frameshift_variant	406				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr11:13398236_13398237insC	D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"""Basic helix-loop-helix proteins"""	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.1381dupC	11.37:g.13398242_13398242dupC	ENSP00000384517:p.Ser459fs					ARNTL_ENST00000401424.1_Frame_Shift_Ins_p.P416fs|ARNTL_ENST00000403482.3_Frame_Shift_Ins_p.P457fs|ARNTL_ENST00000361003.4_Frame_Shift_Ins_p.P341fs|ARNTL_ENST00000389707.4_Frame_Shift_Ins_p.P458fs|ARNTL_ENST00000396441.3_Frame_Shift_Ins_p.P458fs|ARNTL_ENST00000403510.3_Frame_Shift_Ins_p.P415fs|ARNTL_ENST00000403290.1_Frame_Shift_Ins_p.P459fs	p.HP490fs			O00327	BMAL1_HUMAN		Epithelial(150;0.0243)	16	1825_1826	+			0					A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Frame_Shift_Ins	INS	ENST00000403290.1	37	c.1470_1471insC																																																																																					0.584	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	NM_001178		9	668						9	668	---	---	---	---
R3HDM2	22864	broad.mit.edu	37	12	57662753	57662754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr12:57662753_57662754insC	ENST00000347140.3	-	17	2174_2175	c.1784_1785insG	c.(1783-1785)ggcfs	p.G595fs	R3HDM2_ENST00000403821.2_Frame_Shift_Ins_p.G629fs|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000402412.1_Frame_Shift_Ins_p.G609fs|R3HDM2_ENST00000441731.2_Frame_Shift_Ins_p.G290fs|R3HDM2_ENST00000358907.2_Frame_Shift_Ins_p.G595fs|R3HDM2_ENST00000413953.2_Frame_Shift_Ins_p.G322fs|R3HDM2_ENST00000546843.1_5'Flank			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	595	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CTTGCATCTGGCCCCCCATGCT	0.579																																						ENST00000402412.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1825-1827)gcafs		R3H domain containing 2																																				SO:0001589	frameshift_variant	22864					nucleus	nucleic acid binding	g.chr12:57662753_57662754insC	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1785dupG	12.37:g.57662759_57662759dupC	ENSP00000317903:p.Gly595fs					R3HDM2_ENST00000347140.3_Frame_Shift_Ins_p.A595fs|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000441731.2_Frame_Shift_Ins_p.A290fs|R3HDM2_ENST00000413953.2_Frame_Shift_Ins_p.A322fs|R3HDM2_ENST00000403821.2_Frame_Shift_Ins_p.A629fs|R3HDM2_ENST00000393811.2_Frame_Shift_Ins_p.A322fs|R3HDM2_ENST00000358907.2_Frame_Shift_Ins_p.A595fs	p.A609fs			Q9Y2K5	R3HD2_HUMAN			17	2216_2217	-			595			Gln-rich.		Q2M1T9|Q3ZCT5	Frame_Shift_Ins	INS	ENST00000347140.3	37	c.1826_1827insG	CCDS8937.2																																																																																				0.579	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		8	750						8	750	---	---	---	---
LTBP2	4053	broad.mit.edu	37	14	74972756	74972757	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr14:74972756_74972757insC	ENST00000261978.4	-	28	4557_4558	c.4171_4172insG	c.(4171-4173)gctfs	p.A1391fs	LTBP2_ENST00000556690.1_Frame_Shift_Ins_p.A1347fs	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1391					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTCACCTCCAGCCCCCCGTGGG	0.634																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(4171-4173)tggfs		latent transforming growth factor beta binding protein 2																																				SO:0001589	frameshift_variant	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74972756_74972757insC		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.4172dupG	14.37:g.74972762_74972762dupC	ENSP00000261978:p.Ala1391fs					LTBP2_ENST00000556690.1_Frame_Shift_Ins_p.W1347fs	p.W1391fs	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	28	4557_4558	-			1391					Q99907|Q9NS51	Frame_Shift_Ins	INS	ENST00000261978.4	37	c.4171_4172insG	CCDS9831.1																																																																																				0.634	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		7	251						7	251	---	---	---	---
POLG	5428	broad.mit.edu	37	15	89862279	89862280	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:89862279_89862280insC	ENST00000268124.5	-	20	3488_3489	c.3155_3156insG	c.(3154-3156)ggcfs	p.G1052fs	POLG_ENST00000442287.2_Frame_Shift_Ins_p.G1052fs	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	1052					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CTGACTCTGTGCCCCCCTTCCA	0.55								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(3154-3156)gacfs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma																																				SO:0001589	frameshift_variant	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89862279_89862280insC	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.3156dupG	15.37:g.89862285_89862285dupC	ENSP00000268124:p.Gly1052fs					POLG_ENST00000442287.2_Frame_Shift_Ins_p.D1052fs	p.D1052fs	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		20	3488_3489	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		1052					Q8NFM2|Q92515	Frame_Shift_Ins	INS	ENST00000268124.5	37	c.3155_3156insG	CCDS10350.1																																																																																				0.550	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		8	268						8	268	---	---	---	---
IDH2	3418	broad.mit.edu	37	15	90631917	90631918	+	Frame_Shift_Ins	INS	-	-	C	rs200758694	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:90631917_90631918insC	ENST00000330062.3	-	4	548_549	c.435_436insG	c.(433-438)gggactfs	p.T146fs	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Frame_Shift_Ins_p.T16fs|IDH2_ENST00000540499.2_Frame_Shift_Ins_p.T94fs	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	146					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CGGAAGACAGTCCCCCCCAGGA	0.564			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		0				biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(433-438)ggctgtfs		isocitrate dehydrogenase 2 (NADP+), mitochondrial																																				SO:0001589	frameshift_variant	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631917_90631918insC		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.436dupG	15.37:g.90631924_90631924dupC	ENSP00000331897:p.Thr146fs					IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Frame_Shift_Ins_p.C94fs|IDH2_ENST00000539790.1_Frame_Shift_Ins_p.C16fs	p.C146fs	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	548_549	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		146					B2R6L6|B4DFL2|Q96GT3	Frame_Shift_Ins	INS	ENST00000330062.3	37	c.435_436insG	CCDS10359.1																																																																																				0.564	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			7	142						7	142	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102292971	102292974	+	RNA	DEL	CTCA	CTCA	-	rs368873911|rs75843814	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:102292971_102292974delCTCA	ENST00000561463.1	+	0	1017_1020									DNM1 pseudogene 47																		GATGCTGCTTCTCAGAGCTGCTGT	0.583																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102292971_102292974delCTCA	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292971_102292974delCTCA														0	1017_1020	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.583	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	4						3	4	---	---	---	---
ACSM2A	123876	broad.mit.edu	37	16	20482935	20482937	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr16:20482935_20482937delTTA	ENST00000573854.1	+	6	932_934	c.818_820delTTA	c.(817-822)cttatg>ctg	p.M274del	ACSM2A_ENST00000396104.2_In_Frame_Del_p.M274del|ACSM2A_ENST00000417235.2_In_Frame_Del_p.M195del|ACSM2A_ENST00000219054.6_In_Frame_Del_p.M274del|ACSM2A_ENST00000575690.1_In_Frame_Del_p.M274del|ACSM2A_ENST00000536134.1_In_Frame_Del_p.M46del|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	274					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TTGTGCTCACTTATGGAACCTTG	0.438																																						ENST00000573854.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(817-822)ctg>c		acyl-CoA synthetase medium-chain family member 2A																																				SO:0001651	inframe_deletion	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20482935_20482937delTTA	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.818_820delTTA	16.37:g.20482935_20482937delTTA	ENSP00000459451:p.Met274del					ACSM2A_ENST00000575690.1_In_Frame_Del_p.LM273del|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_In_Frame_Del_p.LM273del|ACSM2A_ENST00000536134.1_In_Frame_Del_p.LM45del|ACSM2A_ENST00000417235.2_In_Frame_Del_p.LM194del|ACSM2A_ENST00000396104.2_In_Frame_Del_p.LM273del	p.LM273del	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN			6	932_934	+			273					B3KTT9|O75202	In_Frame_Del	DEL	ENST00000573854.1	37	c.818_820delTTA	CCDS32401.1																																																																																				0.438	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		11	1953						11	1953	---	---	---	---
ABCC11	85320	broad.mit.edu	37	16	48239420	48239421	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr16:48239420_48239421insC	ENST00000394747.1	-	12	2057_2058	c.1708_1709insG	c.(1708-1710)gtgfs	p.V570fs	ABCC11_ENST00000356608.2_Frame_Shift_Ins_p.V570fs|ABCC11_ENST00000353782.5_Frame_Shift_Ins_p.V570fs|ABCC11_ENST00000394748.1_Frame_Shift_Ins_p.V570fs|ABCC11_ENST00000537808.1_Frame_Shift_Ins_p.V570fs	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	570	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GCTTCCCTGCACCCCCACCGAG	0.624																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(1708-1710)gcafs		ATP-binding cassette, sub-family C (CFTR/MRP), member 11																																				SO:0001589	frameshift_variant	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48239420_48239421insC	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1709dupG	16.37:g.48239425_48239425dupC	ENSP00000378230:p.Val570fs					ABCC11_ENST00000394748.1_Frame_Shift_Ins_p.A570fs|ABCC11_ENST00000537808.1_Frame_Shift_Ins_p.A570fs|ABCC11_ENST00000353782.5_Frame_Shift_Ins_p.A570fs|ABCC11_ENST00000356608.2_Frame_Shift_Ins_p.A570fs	p.A570fs	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			12	2057_2058	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	570			ABC transporter 1.		Q8TDJ0|Q96JA6|Q9BX80	Frame_Shift_Ins	INS	ENST00000394747.1	37	c.1708_1709insG	CCDS10732.1																																																																																				0.624	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		8	318						8	318	---	---	---	---
DVL2	1856	broad.mit.edu	37	17	7129593	7129594	+	Frame_Shift_Ins	INS	-	-	C	rs370880170		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:7129593_7129594insC	ENST00000005340.5	-	15	2083_2084	c.1801_1802insG	c.(1801-1803)gcafs	p.A601fs	DVL2_ENST00000575458.1_Frame_Shift_Ins_p.A595fs|MIR324_ENST00000362183.1_RNA|DVL2_ENST00000574642.1_5'Flank	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	601					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)	p.A601fs*80(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CGTGCGCCCTGCCCCCCCATCA	0.723																																						ENST00000005340.5																			2	Deletion - Frameshift(2)	p.A601fs*80(2)	large_intestine(2)	breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(1801-1803)aggfs		dishevelled segment polarity protein 2				13,4169		0,13,2078						0.8	0.9			22	9,8073		0,9,4032	no	frameshift	DVL2	NM_004422.2		0,22,6110	A1A1,A1R,RR		0.1114,0.3109,0.1794				22,12242				SO:0001589	frameshift_variant	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7129593_7129594insC	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.1802dupG	17.37:g.7129600_7129600dupC	ENSP00000005340:p.Ala601fs					DVL2_ENST00000575458.1_Frame_Shift_Ins_p.R595fs	p.R601fs	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN			15	2083_2084	-			601					D3DTN3|Q53XM0	Frame_Shift_Ins	INS	ENST00000005340.5	37	c.1801_1802insG	CCDS11091.1																																																																																				0.723	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		5	11						5	11	---	---	---	---
TOP3A	7156	broad.mit.edu	37	17	18196068	18196069	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:18196068_18196069insC	ENST00000321105.5	-	11	1385_1386	c.1171_1172insG	c.(1171-1173)gccfs	p.A391fs	TOP3A_ENST00000542570.1_Frame_Shift_Ins_p.A296fs|TOP3A_ENST00000540524.1_Intron	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	391					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CTGGGCAAAGGCCCCCCAGCGT	0.55																																						ENST00000321105.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						c.(1171-1173)cttfs		topoisomerase (DNA) III alpha																																				SO:0001589	frameshift_variant	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18196068_18196069insC	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1172dupG	17.37:g.18196074_18196074dupC	ENSP00000321636:p.Ala391fs					TOP3A_ENST00000542570.1_Frame_Shift_Ins_p.L296fs|TOP3A_ENST00000540524.1_Intron	p.L391fs	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN			11	1385_1386	-			391					A8KA61|B4DK80|D3DXC7|Q13473	Frame_Shift_Ins	INS	ENST00000321105.5	37	c.1171_1172insG	CCDS11194.1																																																																																				0.550	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			7	630						7	630	---	---	---	---
KIAA0100	9703	broad.mit.edu	37	17	26962586	26962587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:26962586_26962587insG	ENST00000528896.2	-	16	2092_2093	c.2018_2019insC	c.(2017-2019)ccafs	p.P673fs	KIAA0100_ENST00000544884.1_Frame_Shift_Ins_p.P530fs|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Frame_Shift_Ins_p.P530fs|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	673						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ACATGTGATCTGGGGGGCTCCA	0.505																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(2017-2019)cgafs		KIAA0100																																				SO:0001589	frameshift_variant	9703					extracellular region		g.chr17:26962586_26962587insG	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2019dupC	17.37:g.26962592_26962592dupG	ENSP00000436773:p.Pro673fs					RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Frame_Shift_Ins_p.R530fs|KIAA0100_ENST00000544884.1_Frame_Shift_Ins_p.R530fs	p.R673fs	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			16	2092_2093	-	Lung NSC(42;0.00431)		673					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Frame_Shift_Ins	INS	ENST00000528896.2	37	c.2018_2019insC	CCDS32595.1																																																																																				0.505	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		8	271						8	271	---	---	---	---
SDK2	54549	broad.mit.edu	37	17	71427673	71427674	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:71427673_71427674insC	ENST00000392650.3	-	11	1447_1448	c.1447_1448insG	c.(1447-1449)gtcfs	p.V483fs	SDK2_ENST00000388726.3_Frame_Shift_Ins_p.V483fs	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	483	Ig-like C2-type 5.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGCCTCATCGACCCCCCGAGAG	0.604																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(1447-1449)cgafs		sidekick cell adhesion molecule 2																																				SO:0001589	frameshift_variant	54549				cell adhesion	integral to membrane		g.chr17:71427673_71427674insC	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1448dupG	17.37:g.71427679_71427679dupC	ENSP00000376421:p.Val483fs					SDK2_ENST00000388726.3_Frame_Shift_Ins_p.R483fs	p.R483fs	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			11	1447_1448	-			483			Ig-like C2-type 5.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Frame_Shift_Ins	INS	ENST00000392650.3	37	c.1447_1448insG	CCDS45769.1																																																																																				0.604	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		9	332						9	332	---	---	---	---
ICT1	3396	broad.mit.edu	37	17	73015832	73015833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:73015832_73015833insG	ENST00000301585.5	+	3	274_275	c.261_262insG	c.(262-264)gggfs	p.G88fs		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	88					mitochondrial translational termination (GO:0070126)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|translation release factor activity, codon nonspecific (GO:0016150)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					GTAGTGGTCCTGGGGGGCAGAA	0.441																																						ENST00000301585.5																			0				NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6						c.(259-264)ccggggfs		immature colon carcinoma transcript 1																																				SO:0001589	frameshift_variant	3396				mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific	g.chr17:73015832_73015833insG	X81788	CCDS11711.1	17q25	2014-02-12				ENSG00000167862			5359	protein-coding gene	gene with protein product		603000				8575443, 20186120	Standard	NM_001545		Approved	DS-1	uc002jmm.3	Q14197		ENST00000301585.5:c.267dupG	17.37:g.73015838_73015838dupG	ENSP00000301585:p.Gly88fs						p.PG87fs	NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN			3	274_275	+	all_lung(278;0.226)		87					B2RAD1|Q53HM7|Q53Y11	Frame_Shift_Ins	INS	ENST00000301585.5	37	c.261_262insG	CCDS11711.1																																																																																				0.441	ICT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445314.1	NM_001545		14	976						14	976	---	---	---	---
AKAP8	10270	broad.mit.edu	37	19	15484018	15484019	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr19:15484018_15484019insC	ENST00000269701.2	-	5	564_565	c.504_505insG	c.(502-507)gggcagfs	p.Q169fs		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	169					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TCACTGTACTGCCCCCCAAAGC	0.678																																					GBM(190;1671 2163 3274 27186 30476)	ENST00000269701.2																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						c.(502-507)ggagtafs		A kinase (PRKA) anchor protein 8																																				SO:0001589	frameshift_variant	10270				signal transduction	nuclear matrix		g.chr19:15484018_15484019insC	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.505dupG	19.37:g.15484024_15484024dupC	ENSP00000269701:p.Gln169fs						p.V169fs	NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN			5	564_565	-			169						Frame_Shift_Ins	INS	ENST00000269701.2	37	c.504_505insG	CCDS12329.1																																																																																				0.678	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		7	67						7	67	---	---	---	---
C19orf44	84167	broad.mit.edu	37	19	16633993	16633994	+	IGR	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr19:16633993_16633994insG	ENST00000221671.3	+	0	3427				CHERP_ENST00000546361.2_Frame_Shift_Ins_p.H617fs|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000198939.6_Frame_Shift_Ins_p.H628fs	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44											endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GTTGAAGCCATGGGGGGGAGGG	0.673																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1849-1851)tggfs		calcium homeostasis endoplasmic reticulum protein																																				SO:0001628	intergenic_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16633993_16633994insG	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5			19.37:g.16634000_16634000dupG						CHERP_ENST00000198939.6_Frame_Shift_Ins_p.W628fs|CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron	p.W617fs	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			11	2000_2001	-			617			Pro-rich.		Q8N6Y7	Frame_Shift_Ins	INS	ENST00000221671.3	37	c.1849_1850insC	CCDS12345.1																																																																																				0.673	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		9	119						9	119	---	---	---	---
FAM98C	147965	broad.mit.edu	37	19	38899415	38899416	+	Frame_Shift_Ins	INS	-	-	G	rs551110568|rs559497541|rs375320861		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr19:38899415_38899416insG	ENST00000252530.5	+	8	962_963	c.943_944insG	c.(943-945)cggfs	p.R315fs	FAM98C_ENST00000343358.7_Frame_Shift_Ins_p.R233fs|FAM98C_ENST00000588262.1_Frame_Shift_Ins_p.PG181fs	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	315								p.R315L(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGTTCCAGACCGGGGGGGCCGC	0.564																																						ENST00000252530.5																			1	Substitution - Missense(1)	p.R315L(1)	lung(1)	endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(943-945)gggfs		family with sequence similarity 98, member C																																				SO:0001589	frameshift_variant	147965							g.chr19:38899415_38899416insG		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.950dupG	19.37:g.38899422_38899422dupG	ENSP00000252530:p.Arg315fs					FAM98C_ENST00000343358.7_Frame_Shift_Ins_p.G233fs|FAM98C_ENST00000588262.1_Frame_Shift_Ins_p.R181fs	p.G315fs	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		8	962_963	+	all_cancers(60;3.95e-06)		315					A6NMW3|Q66K45	Frame_Shift_Ins	INS	ENST00000252530.5	37	c.943_944insG	CCDS42562.1																																																																																				0.564	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		9	113						9	113	---	---	---	---
CYP2A13	1553	broad.mit.edu	37	19	41601781	41601782	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr19:41601781_41601782insC	ENST00000330436.3	+	9	1420_1421	c.1420_1421insC	c.(1420-1422)tccfs	p.S474fs		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	474					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	TATCGACGTGTCCCCCAAACAC	0.589																																						ENST00000330436.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(1420-1422)cccfs		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)																																			SO:0001589	frameshift_variant	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41601781_41601782insC	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.1425dupC	19.37:g.41601786_41601786dupC	ENSP00000332679:p.Ser474fs						p.P474fs	NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			9	1420_1421	+			474					Q53YR8|Q6R569|Q6R570|Q9H2X2	Frame_Shift_Ins	INS	ENST00000330436.3	37	c.1420_1421insC	CCDS12571.1																																																																																				0.589	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		10	1327						10	1327	---	---	---	---
DUSP15	128853	broad.mit.edu	37	20	30451726	30451727	+	Frame_Shift_Ins	INS	-	-	C	rs201744217		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr20:30451726_30451727insC	ENST00000278979.3	-	5	313_314	c.237_238insG	c.(235-240)gggaacfs	p.N80fs	DUSP15_ENST00000493115.1_5'UTR|DUSP15_ENST00000375966.4_Frame_Shift_Ins_p.N80fs|DUSP15_ENST00000398084.2_5'UTR|DUSP15_ENST00000398083.1_5'UTR|DUSP15_ENST00000339738.5_Frame_Shift_Ins_p.N83fs|DUSP15_ENST00000486996.1_5'UTR			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	80	Tyrosine-protein phosphatase.				positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACAAGGCAGTTCCCCCCATTAA	0.55																																						ENST00000278979.3																			0				large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7						c.(235-240)ggactgfs		dual specificity phosphatase 15																																				SO:0001589	frameshift_variant	128853					cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr20:30451726_30451727insC		CCDS13193.1, CCDS42862.1	20q11.21	2011-06-09	2005-03-09		ENSG00000149599	ENSG00000149599		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16236	protein-coding gene	gene with protein product			"""dual specificity phosphatase-like 15"""			15138252	Standard	NM_080611		Approved	bA243J16.6, VHY	uc002wwx.1	Q9H1R2	OTTHUMG00000032182	ENST00000278979.3:c.238dupG	20.37:g.30451732_30451732dupC	ENSP00000278979:p.Asn80fs					DUSP15_ENST00000398083.1_5'UTR|DUSP15_ENST00000486996.1_5'UTR|DUSP15_ENST00000398084.2_5'UTR|DUSP15_ENST00000493115.1_5'UTR|DUSP15_ENST00000375966.4_Frame_Shift_Ins_p.L80fs|DUSP15_ENST00000339738.5_Frame_Shift_Ins_p.L83fs	p.L80fs			Q9H1R2	DUS15_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		5	313_314	-			80			Tyrosine-protein phosphatase.		A6NH79|A8MVC8|Q5QP62|Q5QP63|Q5QP65|Q6PGN7|Q8N826|Q9BX24	Frame_Shift_Ins	INS	ENST00000278979.3	37	c.237_238insG																																																																																					0.550	DUSP15-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078555.3	NM_080611		8	581						8	581	---	---	---	---
RP11-423O2.5	0	broad.mit.edu	37	1	142812844	142812844	+	lincRNA	DEL	A	A	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:142812844delA	ENST00000423385.1	-	0	88																											AAGTATAGGCATTTGAAACAT	0.378																																						ENST00000423385.1																			0																																																			0							g.chr1:142812844delA																													1.37:g.142812844delA														0	88	-									RNA	DEL	ENST00000423385.1	37																																																																																						0.378	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			9	44						9	44	---	---	---	---
LCE4A	199834	broad.mit.edu	37	1	152681693	152681698	+	In_Frame_Del	DEL	TGTGGT	TGTGGT	-	rs74871420|rs113617356|rs79268808		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:152681693_152681698delTGTGGT	ENST00000368777.1	+	2	398_403	c.142_147delTGTGGT	c.(142-147)tgtggtdel	p.CG48del	LCE4A_ENST00000335535.3_In_Frame_Del_p.CG48del			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	48	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CTCTGGGGGCTGTGGTTGCTGCAGCT	0.578																																						ENST00000368777.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10						c.(142-147)del		late cornified envelope 4A																																				SO:0001651	inframe_deletion	199834				keratinization			g.chr1:152681693_152681698delTGTGGT	BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"""Late cornified envelopes"""	16613	protein-coding gene	gene with protein product		612618	"""small proline rich-like (epidermal differentiation complex) 4A"""	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	ENST00000368777.1:c.142_147delTGTGGT	1.37:g.152681693_152681698delTGTGGT	ENSP00000357766:p.Cys48_Gly49del					LCE4A_ENST00000335535.3_In_Frame_Del_p.CG48del	p.CG48del			Q5TA78	LCE4A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.116)		2	398_403	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		48			Cys-rich.		Q14D97	In_Frame_Del	DEL	ENST00000368777.1	37	c.142_147delTGTGGT	CCDS1022.1																																																																																				0.578	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040048.1	NM_178356		7	212						7	212	---	---	---	---
LOC728730	728730	broad.mit.edu	37	2	39723084	39723085	+	RNA	INS	-	-	CTTC	rs57997122|rs74177089|rs201781002		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:39723084_39723085insCTTC	ENST00000449569.1	+	0	282				AC007246.3_ENST00000443038.1_RNA|AC007246.3_ENST00000446698.1_RNA|AC007246.3_ENST00000422128.1_RNA|AC007246.3_ENST00000426083.1_RNA	NR_037875.1																						tctttctttttcttccttcctt	0.351																																						ENST00000449569.1																			0																																																			728730							g.chr2:39723084_39723085insCTTC																													2.37:g.39723089_39723092dupCTTC						AC007246.3_ENST00000422128.1_RNA|AC007246.3_ENST00000443038.1_RNA|AC007246.3_ENST00000426083.1_RNA|AC007246.3_ENST00000446698.1_RNA		NR_037875.1						0	282	+									RNA	INS	ENST00000449569.1	37																																																																																						0.351	AC007246.3-002	KNOWN	basic	antisense	antisense	OTTHUMT00000325723.1			3	6						3	6	---	---	---	---
AC010987.5	0	broad.mit.edu	37	2	67865189	67865190	+	lincRNA	INS	-	-	AGGGAGGAAGGAAGGA	rs150354010|rs12613511	byFrequency	TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:67865189_67865190insAGGGAGGAAGGAAGGA	ENST00000419809.1	-	0	126																											gggaggaagggaggaaagaaag	0.396																																						ENST00000419809.1																			0																																																			0							g.chr2:67865189_67865190insAGGGAGGAAGGAAGGA																													2.37:g.67865189_67865190insAGGGAGGAAGGAAGGA														0	126	-									RNA	INS	ENST00000419809.1	37																																																																																						0.396	AC010987.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000326766.1			3	4						3	4	---	---	---	---
AC073321.4	0	broad.mit.edu	37	2	217474994	217474994	+	lincRNA	DEL	T	T	-	rs71401155	byFrequency	TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:217474994delT	ENST00000441803.1	+	0	195																											tctttctttcttttttttttt	0.393													|||unknown(HR)	2984	0.595847	0.4977	0.6196	5008	,	,		15474	0.5893		0.6431	False		,,,				2504	0.6697					ENST00000441803.1																			0																																																			0							g.chr2:217474994delT																													2.37:g.217474994delT														0	195	+									RNA	DEL	ENST00000441803.1	37																																																																																						0.393	AC073321.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000339548.2			3	5						3	5	---	---	---	---
SLC12A8	84561	broad.mit.edu	37	3	124810981	124810982	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:124810981_124810982insT	ENST00000393469.4	-	10	1815_1816	c.1766_1767insA	c.(1765-1767)tatfs	p.Y589fs	SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000430155.2_Frame_Shift_Ins_p.Y390fs|SLC12A8_ENST00000423114.2_Frame_Shift_Ins_p.Y618fs|SLC12A8_ENST00000469902.1_Frame_Shift_Ins_p.Y589fs	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	589					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						ACATGTGGGTATAGAAAGAAGT	0.45																																						ENST00000423114.2																			0				endometrium(2)|kidney(2)|lung(12)	16						c.(1852-1854)tacfs		solute carrier family 12, member 8																																				SO:0001589	frameshift_variant	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124810981_124810982insT		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.1767dupA	3.37:g.124810982_124810982dupT	ENSP00000377112:p.Tyr589fs					SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000430155.2_Frame_Shift_Ins_p.Y390fs|SLC12A8_ENST00000393469.4_Frame_Shift_Ins_p.Y589fs|SLC12A8_ENST00000469902.1_Frame_Shift_Ins_p.Y589fs|SLC12A8_ENST00000314584.7_Intron	p.Y618fs			A0AV02	S12A8_HUMAN			11	1852_1853	-			589					C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Frame_Shift_Ins	INS	ENST00000393469.4	37	c.1853_1854insA	CCDS43143.1																																																																																				0.450	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		46	79						46	79	---	---	---	---
OPA1	4976	broad.mit.edu	37	3	193382692	193382693	+	Frame_Shift_Ins	INS	-	-	TATA			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:193382692_193382693insTATA	ENST00000392438.3	+	25	2754_2755	c.2520_2521insTATA	c.(2521-2523)tatfs	p.-841fs	OPA1_ENST00000361150.2_Frame_Shift_Ins_p.-842fs|OPA1_ENST00000361908.3_Frame_Shift_Ins_p.-878fs|OPA1_ENST00000361510.2_Frame_Shift_Ins_p.-896fs|OPA1_ENST00000361828.2_Frame_Shift_Ins_p.-859fs|OPA1_ENST00000361715.2_Frame_Shift_Ins_p.-860fs	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)						apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GGCATCAAGTTTATAGAAGACA	0.327																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2683-2688)gtatagfs		optic atrophy 1 (autosomal dominant)																																				SO:0001589	frameshift_variant	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193382692_193382693insTATA	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.2521_2524dupTATA	3.37:g.193382693_193382696dupTATA	ENSP00000376233:p.Tyr841fs					OPA1_ENST00000361150.2_Frame_Shift_Ins_p.*842fs|OPA1_ENST00000361715.2_Frame_Shift_Ins_p.*860fs|OPA1_ENST00000361908.3_Frame_Shift_Ins_p.*878fs|OPA1_ENST00000361828.2_Frame_Shift_Ins_p.*859fs|OPA1_ENST00000392438.3_Frame_Shift_Ins_p.*841fs	p.*896fs	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	27	2919_2920	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		841					D3DNW4	Frame_Shift_Ins	INS	ENST00000392438.3	37	c.2685_2686insTATA	CCDS43186.1																																																																																				0.327	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		32	106						32	106	---	---	---	---
NRG2	9542	broad.mit.edu	37	5	139422171	139422172	+	In_Frame_Ins	INS	-	-	TAG			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr5:139422171_139422172insTAG	ENST00000361474.1	-	1	707_708	c.483_484insCTA	c.(481-486)gtaaag>gtaCTAaag	p.161_162VK>VLK	NRG2_ENST00000289422.7_In_Frame_Ins_p.161_162VK>VLK|NRG2_ENST00000394770.1_In_Frame_Ins_p.161_162VK>VLK|NRG2_ENST00000541337.1_In_Frame_Ins_p.161_162VK>VLK|NRG2_ENST00000545385.1_In_Frame_Ins_p.161_162VK>VLK|NRG2_ENST00000358522.3_In_Frame_Ins_p.161_162VK>VLK|NRG2_ENST00000289409.4_In_Frame_Ins_p.161_162VK>VLK	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	161					embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGCACCTTTACCAACGCCA	0.693																																						ENST00000541337.1																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(481-486)gtaggt>gtCTAaggt		neuregulin 2																																				SO:0001652	inframe_insertion	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139422171_139422172insTAG		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.483_484insCTA	5.37:g.139422171_139422172insTAG	ENSP00000354910:p.Val161_Lys162insLeu					NRG2_ENST00000545385.1_In_Frame_Ins_p.161_162VG>V*G|NRG2_ENST00000289409.4_In_Frame_Ins_p.161_162VG>V*G|NRG2_ENST00000358522.3_In_Frame_Ins_p.161_162VG>V*G|NRG2_ENST00000361474.1_In_Frame_Ins_p.161_162VG>V*G|NRG2_ENST00000289422.7_In_Frame_Ins_p.161_162VG>V*G|NRG2_ENST00000394770.1_In_Frame_Ins_p.161_162VG>V*G	p.161_162VG>V*G	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	712_713	-			161						In_Frame_Ins	INS	ENST00000361474.1	37	c.483_484insCTA	CCDS4217.1																																																																																				0.693	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		21	57						21	57	---	---	---	---
DSP	1832	broad.mit.edu	37	6	7542148	7542149	+	De_novo_Start_InFrame	INS	-	-	A	rs17133512|rs75823494	byFrequency	TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:7542148_7542149insA	ENST00000379802.3	+	0	341_342				RP3-512B11.3_ENST00000561592.1_RNA|DSP_ENST00000418664.2_De_novo_Start_InFrame	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin						adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGCCCGCCGACATGAGCTGCAA	0.718													|||unknown(LONG_INSERTION)	1000	0.199681	0.2186	0.2291	5008	,	,		12541	0.2778		0.1451	False		,,,				2504	0.1288					ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101								desmoplakin			,	867,3321		117,633,1344					,	0.8	1.0		dbSNP_123	10	1183,6941		133,917,3012	no	frameshift,frameshift	DSP	NM_004415.2,NM_001008844.1	,	250,1550,4356	A1A1,A1R,RR		14.5618,20.702,16.6504	,	,		2050,10262						1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7542148_7542149insA	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212		6.37:g.7542149_7542149dupA						DSP_ENST00000418664.2_De_novo_Start_InFrame		NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	0	341_342	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)						B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Translation_Start_Site	INS	ENST00000379802.3	37		CCDS4501.1																																																																																				0.718	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		18	2						18	2	---	---	---	---
MDFI	4188	broad.mit.edu	37	6	41621169	41621171	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:41621169_41621171delCTG	ENST00000373050.4	+	4	601_603	c.414_416delCTG	c.(412-417)ctctgc>ctc	p.C143del				Q99750	MDFI_HUMAN	MyoD family inhibitor	204					activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACTCGTGCCTCTGCTGCTGCTGC	0.655																																						ENST00000373050.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(412-417)ctc>ct		MyoD family inhibitor																																				SO:0001651	inframe_deletion	4188				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr6:41621169_41621171delCTG	U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"""inhibitor of MyoD family a"""	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.414_416delCTG	6.37:g.41621178_41621180delCTG	ENSP00000362141:p.Cys143del						p.LC138del			Q99750	MDFI_HUMAN	Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)		4	601_603	+	Ovarian(28;0.0327)|Colorectal(47;0.121)		199						In_Frame_Del	DEL	ENST00000373050.4	37	c.414_416delCTG																																																																																					0.655	MDFI-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000040519.2	NM_005586		7	1148						7	1148	---	---	---	---
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs200886831|rs551189349|rs199544375		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)gccgggdel	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777																																						ENST00000244496.5																			2	Deletion - In frame(2)	p.A8_G9delAG(2)	prostate(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						c.(22-27)del		ribosomal RNA processing 36 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	88745				ribosomal small subunit biogenesis|rRNA processing	nucleolus		g.chr6:42989414_42989419delGCCGGG	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.22_27delGCCGGG	6.37:g.42989420_42989425delGCCGGG	ENSP00000244496:p.Ala14_Gly15del						p.AG14del	NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN			1	32_37	+			14					Q9BRF6|Q9P0C8	In_Frame_Del	DEL	ENST00000244496.5	37	c.22_27delGCCGGG	CCDS34453.1																																																																																				0.777	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		20	31						20	31	---	---	---	---
SNX14	57231	broad.mit.edu	37	6	86223568	86223568	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:86223568delT	ENST00000314673.3	-	26	2779	c.2603delA	c.(2602-2604)aagfs	p.K868fs	SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000369627.2_Frame_Shift_Del_p.K859fs|SNX14_ENST00000505648.1_Frame_Shift_Del_p.K816fs|SNX14_ENST00000346348.3_Frame_Shift_Del_p.K815fs|SNX14_ENST00000513865.1_Frame_Shift_Del_p.K587fs	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	868					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TCCTTTTTGCTTATCTTGGAG	0.303																																						ENST00000314673.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22						c.(2602-2604)agfs		sorting nexin 14							89.0	91.0	90.0					6																	86223568		2203	4296	6499	SO:0001589	frameshift_variant	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86223568delT	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.2603delA	6.37:g.86223568delT	ENSP00000313121:p.Lys868fs					SNX14_ENST00000346348.3_Frame_Shift_Del_p.K815fs|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000369627.2_Frame_Shift_Del_p.K859fs|SNX14_ENST00000513865.1_Frame_Shift_Del_p.K587fs|SNX14_ENST00000505648.1_Frame_Shift_Del_p.K816fs	p.K868fs	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	26	2779	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	868					B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Frame_Shift_Del	DEL	ENST00000314673.3	37	c.2603delA	CCDS5004.1																																																																																				0.303	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		65	76						65	76	---	---	---	---
TRGC2	6967	broad.mit.edu	37	7	38284884	38284885	+	RNA	INS	-	-	GG	rs138091320|rs200076851|rs377514954		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr7:38284884_38284885insGG	ENST00000436911.2	-	0	330							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										TTATTTGTCAAGgtgtgtgtgt	0.391																																						ENST00000436911.2																			0																																																			6967							g.chr7:38284884_38284885insGG	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38284885_38284886dupGG														0	330	-									RNA	INS	ENST00000436911.2	37																																																																																						0.391	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		28	262						28	262	---	---	---	---
GUSB	2990	broad.mit.edu	37	7	65429390	65429396	+	Frame_Shift_Del	DEL	TGGTACT	TGGTACT	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr7:65429390_65429396delTGGTACT	ENST00000304895.4	-	11	1833_1839	c.1703_1709delAGTACCA	c.(1702-1710)cagtaccatfs	p.QYH568fs	GUSB_ENST00000421103.1_Frame_Shift_Del_p.QYH422fs|GUSB_ENST00000345660.6_Frame_Shift_Del_p.QYH517fs	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	568					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CAGACCCAGATGGTACTGCTCTAGCAG	0.435																																						ENST00000304895.4																			0				breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						c.(1702-1710)ctfs		glucuronidase, beta																																				SO:0001589	frameshift_variant	2990				glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding	g.chr7:65429390_65429396delTGGTACT	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1703_1709delAGTACCA	7.37:g.65429390_65429396delTGGTACT	ENSP00000302728:p.Gln568fs					GUSB_ENST00000421103.1_Frame_Shift_Del_p.QYH422fs|GUSB_ENST00000345660.6_Frame_Shift_Del_p.QYH517fs	p.QYH568fs	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN			11	1833_1839	-			568					B4E1F6|E9PCV0|Q549U0|Q96CL9	Frame_Shift_Del	DEL	ENST00000304895.4	37	c.1703_1709delAGTACCA	CCDS5530.1																																																																																				0.435	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		59	102						59	102	---	---	---	---
PTP4A3	11156	broad.mit.edu	37	8	142444235	142444238	+	IGR	DEL	GGGT	GGGT	-	rs371671775		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr8:142444235_142444238delGGGT	ENST00000521578.1	+	0	1717				CTD-3064M3.7_ENST00000606664.1_RNA|MROH5_ENST00000430863.1_RNA			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3						peptidyl-tyrosine dephosphorylation (GO:0035335)	endosome (GO:0005768)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			GGTGTTGGGGGGGTGGGGGGTGGG	0.637																																						ENST00000430863.1																			0													maestro heat-like repeat family member 5																																				SO:0001628	intergenic_variant	389690							g.chr8:142444235_142444238delGGGT	AF041434	CCDS6382.1, CCDS6383.1	8q24.3	2011-06-09				ENSG00000184489		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9636	protein-coding gene	gene with protein product		606449					Standard	NM_032611		Approved	PRL-3, PRL-R, PRL3	uc003ywg.1	O75365			8.37:g.142444235_142444238delGGGT								NM_207414.2	NP_997297.2					0	3937	-								Q8IVN5|Q99849|Q9BTW5	RNA	DEL	ENST00000521578.1	37		CCDS6383.1																																																																																				0.637	PTP4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378977.1	NM_032611		2	4						2	4	---	---	---	---
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754|rs542581403|rs199786165	byFrequency	TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cctcctaca>cca	p.PT470del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	470	Poly-Pro.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573																																						ENST00000256186.2																			2	Deletion - In frame(2)	p.T471delT(2)	upper_aerodigestive_tract(1)|skin(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1405-1413)cca>c		MICAL C-terminal like				494,2594		71,352,1121						-0.7	0.0		dbSNP_107	5	1955,4965		272,1411,1777	no	coding	MICALCL	NM_032867.2		343,1763,2898	A1A1,A1R,RR		28.2514,15.9974,24.4704				2449,7559				SO:0001651	inframe_deletion	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12316384_12316389delCTCCTA	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1406_1411delCTCCTA	11.37:g.12316384_12316389delCTCCTA	ENSP00000256186:p.Pro470_Thr471del						p.PPT469del	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	1697_1702	+			469			Poly-Pro.		Q7RTP7|Q96JU6	In_Frame_Del	DEL	ENST00000256186.2	37	c.1406_1411delCTCCTA	CCDS41620.1																																																																																				0.573	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		8	23						8	23	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			646405							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			6	13						6	13	---	---	---	---
LOC101928850	101928850	broad.mit.edu	37	15	61899461	61899462	+	lincRNA	INS	-	-	AAGA	rs544004677|rs201936490	byFrequency	TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:61899461_61899462insAAGA	ENST00000561182.1	+	0	1850				RP11-507B12.2_ENST00000559783.1_lincRNA																							aggaaggaaggaaggaaggaag	0.47														313	0.0625	0.1974	0.0259	5008	,	,		10559	0.0		0.0328	False		,,,				2504	0.001					ENST00000559783.1																			0																																																			0							g.chr15:61899461_61899462insAAGA																													15.37:g.61899461_61899462insAAGA														0	35	-									RNA	INS	ENST00000561182.1	37																																																																																						0.470	RP11-259A24.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000415993.1			5	2						5	2	---	---	---	---
TMEM8A	58986	broad.mit.edu	37	16	437259	437260	+	5'Flank	DEL	AT	AT	-	rs148097303		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr16:437259_437260delAT	ENST00000476735.1	-	0	0				Z97634.3_ENST00000412293.1_RNA			Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A						cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CTAATTCTAAATATATATATAT	0.421																																						ENST00000412293.1																			0																																																	SO:0001631	upstream_gene_variant	100134368							g.chr16:437259_437260delAT	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996		16.37:g.437269_437270delAT	Exception_encountered							NR_024453.2						0	521	+								D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	RNA	DEL	ENST00000476735.1	37																																																																																						0.421	TMEM8A-007	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000313680.1	NM_021259		7	28						7	28	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																						ENST00000525643.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(514-516)gaafs		interleukin 32																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs	p.E172fs			P24001	IL32_HUMAN			7	847_848	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.515_516insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		13	421						13	421	---	---	---	---
GLIS2	84662	broad.mit.edu	37	16	4383391	4383392	+	In_Frame_Ins	INS	-	-	TTT	rs370568910		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr16:4383391_4383392insTTT	ENST00000262366.3	+	4	1037_1038	c.216_217insTTT	c.(217-219)ttt>TTTttt	p.73_73F>FF	GLIS2_ENST00000433375.1_In_Frame_Ins_p.73_73F>FF|PAM16_ENST00000577031.1_Intron|RP11-295D4.1_ENST00000574705.1_RNA			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	73	Interaction with CTNND1. {ECO:0000250}.|Transcription activation. {ECO:0000250}.				cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGGAGGGACGCTTTTCAGCAGC	0.639																																						ENST00000262366.3																			0				breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(214-219)cgtttc>cgTTTtttc		GLIS family zinc finger 2																																				SO:0001652	inframe_insertion	84662				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding	g.chr16:4383391_4383392insTTT	AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"""Zinc fingers, C2H2-type"""	29450	protein-coding gene	gene with protein product	"""nephrocystin-7"""	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.217_219dupTTT	16.37:g.4383392_4383394dupTTT	ENSP00000262366:p.Phe73dup					PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_In_Frame_Ins_p.73_74insF	p.73_74insF			Q9BZE0	GLIS2_HUMAN			4	1037_1038	+			73			Interaction with CTNND1 (By similarity).|Transcription activation (By similarity).		B3KX84	In_Frame_Ins	INS	ENST00000262366.3	37	c.216_217insTTT	CCDS10511.1																																																																																				0.639	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251630.1	NM_032575		22	38						22	38	---	---	---	---
KRTAP9-9	81870	broad.mit.edu	37	17	39411670	39411671	+	In_Frame_Ins	INS	-	-	ACCTGCTGCAGGACC	rs67700678|rs540633489	byFrequency	TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:39411670_39411671insACCTGCTGCAGGACC	ENST00000394008.1	+	1	35_36	c.33_34insACCTGCTGCAGGACC	c.(34-36)acc>ACCTGCTGCAGGACCacc	p.12_12T>TCCRTT		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	12	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGTCAGCCTACCTGCTGCAG	0.604														2488	0.496805	0.298	0.647	5008	,	,		16406	0.4196		0.5805	False		,,,				2504	0.6524					ENST00000394008.1																			0				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(31-36)cccctg>ccACCTGCTGCAGGACCcctg		keratin associated protein 9-9																																				SO:0001652	inframe_insertion	81870					keratin filament		g.chr17:39411670_39411671insACCTGCTGCAGGACC	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"""Keratin associated proteins"""	16773	protein-coding gene	gene with protein product			"""keratin associated protein 9-5"""	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.34_48dupACCTGCTGCAGGACC	17.37:g.39411670_39411671insACCTGCTGCAGGACC	Exception_encountered						p.10_11insPPAAG	NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	35_36	+		Breast(137;0.000496)	10					B5MDD6|Q9BYQ1	In_Frame_Ins	INS	ENST00000394008.1	37	c.33_34insACCTGCTGCAGGACC	CCDS54127.1																																																																																				0.604	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		14	147						14	147	---	---	---	---
LLGL2	3993	broad.mit.edu	37	17	73569700	73569701	+	Frame_Shift_Ins	INS	-	-	G	rs371719084|rs112393371|rs200046748	byFrequency	TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:73569700_73569701insG	ENST00000392550.3	+	21	2981_2982	c.2864_2865insG	c.(2863-2868)ccgagcfs	p.S956fs	LLGL2_ENST00000577200.1_Frame_Shift_Ins_p.S956fs|LLGL2_ENST00000167462.5_Frame_Shift_Ins_p.S956fs	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	956					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AAGAAGGCCCCGAGCCGAGCCA	0.668																																						ENST00000392550.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2863-2865)cagfs		lethal giant larvae homolog 2 (Drosophila)																																				SO:0001589	frameshift_variant	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73569700_73569701insG	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.2865dupG	17.37:g.73569701_73569701dupG	ENSP00000376333:p.Ser956fs					LLGL2_ENST00000577200.1_Frame_Shift_Ins_p.Q955fs|LLGL2_ENST00000167462.5_Frame_Shift_Ins_p.Q955fs	p.Q955fs	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		21	2981_2982	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		955					Q14521|Q9BR62	Frame_Shift_Ins	INS	ENST00000392550.3	37	c.2864_2865insG	CCDS32733.1																																																																																				0.668	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		7	86						7	86	---	---	---	---
TUBB8P12	260334	broad.mit.edu	37	18	48227	48228	+	Frame_Shift_Del	DEL	TG	TG	-	rs200634579	byFrequency	TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr18:48227_48228delTG	ENST00000573909.1	-	3	927_928	c.395_396delCA	c.(394-396)acafs	p.T132fs	RP11-683L23.1_ENST00000594555.1_5'UTR|RP11-683L23.1_ENST00000308911.6_Frame_Shift_Del_p.T166fs																							GGATGCTGAATGTGTTTATGAT	0.579																																						ENST00000573909.1																			0											c.(394-396)afs																																						SO:0001589	frameshift_variant	0							g.chr18:48227_48228delTG																												ENST00000573909.1:c.395_396delCA	18.37:g.48229_48230delTG	ENSP00000459638:p.Thr132fs					RP11-683L23.1_ENST00000308911.6_Frame_Shift_Del_p.T166fs|RP11-683L23.1_ENST00000594555.1_5'UTR	p.T132fs							3	927_928	-									Frame_Shift_Del	DEL	ENST00000573909.1	37	c.395_396delCA																																																																																					0.579	RP11-683L23.1-002	PUTATIVE	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000439819.1			28	250						28	250	---	---	---	---
LOC100420587	100420587	broad.mit.edu	37	19	29198696	29198696	+	lincRNA	DEL	A	A	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr19:29198696delA	ENST00000592347.1	-	0	642																											GTCCATGAGTAGGGTCCACAG	0.463																																						ENST00000592347.1																			0																																																			100420587							g.chr19:29198696delA																													19.37:g.29198696delA														0	642	-									RNA	DEL	ENST00000592347.1	37																																																																																						0.463	AC005307.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000453069.1			2	4						2	4	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46299147	46299149	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr19:46299147_46299149delCCT	ENST00000221538.3	-	6	2274_2276	c.2132_2134delAGG	c.(2131-2136)gagggc>ggc	p.E711del	RSPH6A_ENST00000600188.1_In_Frame_Del_p.E447del|RSPH6A_ENST00000597055.1_3'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	711	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GTctcctcgccctcctcctcctc	0.557																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(2131-2136)ggc>g		radial spoke head 6 homolog A (Chlamydomonas)																																				SO:0001651	inframe_deletion	81492					intracellular		g.chr19:46299147_46299149delCCT	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.2132_2134delAGG	19.37:g.46299156_46299158delCCT	ENSP00000221538:p.Glu711del					RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG447del|RSPH6A_ENST00000597055.1_3'UTR	p.EG711del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN			6	2274_2276	-			711			Glu-rich.		Q53FE2|Q6PEZ9	In_Frame_Del	DEL	ENST00000221538.3	37	c.2132_2134delAGG	CCDS12675.1																																																																																				0.557	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			12	270						12	270	---	---	---	---
CRYBB2P1	1416	broad.mit.edu	37	22	25855682	25855683	+	RNA	INS	-	-	GT	rs61433517|rs71322752		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr22:25855682_25855683insGT	ENST00000609084.1	+	0	0									crystallin, beta B2 pseudogene 1																		CCTGGCAGCTGgtgtgtgtgtg	0.53																																						ENST00000354451.2																			0																																																			1416							g.chr22:25855682_25855683insGT	M18441		22q11.2-q12.1	2012-02-29			ENSG00000100058	ENSG00000100058			2399	pseudogene	pseudogene				CRYB2B			Standard	NR_033733		Approved		uc003abu.4		OTTHUMG00000150874		22.37:g.25855691_25855692dupGT														0	366	+									RNA	INS	ENST00000609084.1	37																																																																																						0.530	CRYBB2P1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472347.1			2	4						2	4	---	---	---	---
